@article {pmid40376199,
year = {2025},
author = {Bian, Y and Song, C and Nie, Y and Shen, X and Hui, F and Yu, G},
title = {Breast cancer metastasis to the nasopharynx: A case report.},
journal = {Oncology letters},
volume = {30},
number = {1},
pages = {331},
pmid = {40376199},
issn = {1792-1082},
abstract = {Breast cancer is a leading cause of cancer-related mortality in women, with metastasis posing a significant clinical challenge. However, spread to the nasopharynx and nasal cavity is exceptionally rare. The current study presents the case of a 53-year-old woman diagnosed with invasive ductal carcinoma of the right breast, which later metastasized to the nasopharynx. Despite undergoing modified radical mastectomy, chemotherapy and endocrine therapy, the patient developed symptoms indicative of distant metastasis. The present study reviews the diagnostic and therapeutic approaches for such rare occurrences, offering insights into effective management. The study analyzes this case alongside previously reported instances with the aim of enhancing awareness and facilitating early detection and intervention.},
}

@article {pmid40350661,
year = {2025},
author = {Farzan, JJ and Guart, JA and Kulkarni, N and Roberts, S and De la Cruz-Ku, G and Czerniach, DR and Dinh, KH},
title = {Managing Necrotizing Soft-Tissue Infection in Breast Cancer: A Case of Emergency Toilet Mastectomy.},
journal = {The American journal of case reports},
volume = {26},
number = {},
pages = {e946669},
doi = {10.12659/AJCR.946669},
pmid = {40350661},
issn = {1941-5923},
mesh = {Humans ; Female ; *Breast Neoplasms/surgery/complications/pathology ; Aged ; *Mastectomy/methods ; *Carcinoma, Ductal, Breast/surgery/complications ; *Soft Tissue Infections/surgery/etiology ; Debridement ; Necrosis ; },
abstract = {BACKGROUND This case report presents a rare instance of advanced breast cancer presenting with superimposed necrotizing soft-tissue infection (NSTI) and sepsis, uniquely managed with an emergency toilet mastectomy. Toilet mastectomies have become increasingly rare and controversial in modern surgical oncology and are generally limited to palliative indications. This report contributes to the limited literature on NSTI of the breast in the setting of malignancy and highlights the potential utility of toilet mastectomy as a palliative option for carefully selected patients with advanced breast cancer complicated by infection. CASE REPORT A 71-year-old woman presented with a large fungating right breast mass after 50 years of receiving no health care. She was septic, with clinical signs of NSTI. Emergency surgical intervention involved a toilet mastectomy with extensive debridement. Histopathological analysis confirmed high-grade invasive ductal carcinoma of the breast with skin involvement, ER/PR-positive, HER2-negative, pT4bN0Mx. Cultures were consistent with type 1 NSTI. The postoperative course was complicated, requiring prolonged ICU care, multiple debridements, and advanced wound management. Significant complications included septic shock, acute kidney injury, and wound dehiscence. CONCLUSIONS This case is notable for 3 key aspects: (1) NSTI and sepsis are rare but serious complications of advanced breast cancer, underscoring the need for clinicians to maintain a high index of suspicion for this condition; (2) timely and aggressive management of NSTI, regardless of its association with underlying malignancy, is critical for reducing morbidity and mortality; and (3) toilet mastectomy, although less commonly performed today, remains an appropriate palliative intervention in select cases.},
}

Humans
Female
*Breast Neoplasms/surgery/complications/pathology
Aged
*Mastectomy/methods
*Carcinoma, Ductal, Breast/surgery/complications
*Soft Tissue Infections/surgery/etiology
Debridement
Necrosis

@article {pmid40340873,
year = {2025},
author = {Gao, Y and Ali, H and Hu, Z and Sun, H},
title = {Sarcoid-like Reaction in Breast Cancer Tumor Bed and Axillary Lymph Nodes Following Neoadjuvant Chemotherapy: A Case Report.},
journal = {Annals of clinical and laboratory science},
volume = {55},
number = {2},
pages = {281-285},
pmid = {40340873},
issn = {1550-8080},
mesh = {Humans ; Female ; *Breast Neoplasms/pathology/drug therapy/surgery ; *Neoadjuvant Therapy/adverse effects ; *Lymph Nodes/pathology ; Axilla/pathology ; Middle Aged ; Lymphatic Metastasis ; *Sarcoidosis/pathology ; *Carcinoma, Ductal, Breast/drug therapy/pathology ; },
abstract = {Although granulomatous change is not commonly seen in breast cancer tumor bed and/or lymph node after neoadjuvant chemotherapy (NCT), they may mimic lymph node metastasis or tumor progression or recurrence. We present a case of diffuse sarcoid-like reaction (SLR) developed in both the breast tumor bed and axillary lymph nodes after NCT. A postmenopausal Hispanic woman presented with a 11.4 cm left breast mass with swollen lymph nodes in her left axilla. A core biopsy of the breast mass was performed, leading to the diagnosis of grade 3 invasive ductal carcinoma. The tumor is negative for estrogen receptor, progesterone receptor, and human epidermal growth factor receoptor-2 overexpression. The patient received NCT with three cycles of doxorubicin and cyclophosphamide, followed by weekly paclitaxel for 12 weeks. After NCT, the tumor in her left breast significantly reduced in size, but the lymph nodes remained swollen. She subsequently underwent left modified radical mastectomy. Histological examination of the treated tumor bed revealed residual invasive tumor with frequent non-caseating granulomatous change. The granulomatous reaction was also seen in several axillary lymph nodes, of which only one had residual metastatic tumor cells. Idiopathic granulomatous mastitis, sarcoidosis, and infective etiologies were excluded based on the patient's medical history, imaging, and histological findings. We report a case of localized SLR in response to NCT in breast cancer tumor bed and axillary lymph nodes. Recognizing this feature is important to avoid misdiagnosis and overtreatment of SLR as residual cancer.},
}

Humans
Female
*Breast Neoplasms/pathology/drug therapy/surgery
*Neoadjuvant Therapy/adverse effects
*Lymph Nodes/pathology
Axilla/pathology
Middle Aged
Lymphatic Metastasis
*Sarcoidosis/pathology
*Carcinoma, Ductal, Breast/drug therapy/pathology

@article {pmid40269494,
year = {2025},
author = {Nakamura, S and Fujii, K and Sakai, M and Sakai, K and Hanazawa, H and Nishimura, K and Notohara, K and Yamaguchi, K and Itasaka, S},
title = {Arm-Behind-the-Back Position for Breast Cancer Radiotherapy in Patients with Lupus Erythematosus and Shoulder Arthropathy: A Case Report.},
journal = {The American journal of case reports},
volume = {26},
number = {},
pages = {e946674},
pmid = {40269494},
issn = {1941-5923},
mesh = {Humans ; Female ; *Breast Neoplasms/radiotherapy/complications/surgery ; Adult ; *Lupus Erythematosus, Systemic/complications ; *Carcinoma, Ductal, Breast/radiotherapy/complications/surgery ; *Shoulder Joint ; *Patient Positioning/methods ; *Radiotherapy, Conformal/methods ; },
abstract = {BACKGROUND When 3-dimensional conformal radiation therapy (3DCRT) for postoperative breast cancer is performed in the supine position, patients are required to raise their arms to spare the arms from the irradiation field. However, patients with collagen vascular disease can experience severe joint symptoms. CASE REPORT A 43-year-old woman with a history of systemic lupus erythematosus (SLE) 10 years ago received a diagnosis of invasive ductal carcinoma of the left breast. Breast-conserving surgery and sentinel lymph node biopsy were performed. The pathological stage was IA. Physical and immunological examinations indicated that SLE disease activity was stable preoperatively and postoperatively. She had difficulty holding her left arm in a raised position because of arthritis related to SLE and steroid therapy. For postoperative radiation therapy, we developed an arm-behind-the-back position, in which a platform was placed between the patient's body and couch. In this position, the patient's arm was lowered behind the back, such that the arm did not interfere with the irradiation field of 3DCRT. The treatment plan achieved an acceptable homogeneity index, low dose to the lungs and heart, and no problematic hotspots. Although the time required for position matching and irradiation tended to be longer than that in the regular supine position, scheduled irradiation was safely completed. Grade 2 radiation dermatitis was observed. The patient showed no signs of local recurrence or distant metastases after 15 months. No radiation pneumonitis was observed. CONCLUSIONS The ingenuity of positioning can achieve radiotherapy in patients with collagen vascular disease and shoulder joint symptoms.},
}

Humans
Female
*Breast Neoplasms/radiotherapy/complications/surgery
Adult
*Lupus Erythematosus, Systemic/complications
*Carcinoma, Ductal, Breast/radiotherapy/complications/surgery
*Shoulder Joint
*Patient Positioning/methods
*Radiotherapy, Conformal/methods

@article {pmid40262013,
year = {2025},
author = {Young, R and Zaworski, E and Hart, M and Grewe, B and Liang, E and Pierpont, Y},
title = {Sarcoidosis Masquerading as Breast Implant- Associated Anaplastic Large Cell Lymphoma - The Importance of Definitive Pathology to Guide Therapy.},
journal = {WMJ : official publication of the State Medical Society of Wisconsin},
volume = {124},
number = {1},
pages = {71-73},
pmid = {40262013},
issn = {2379-3961},
mesh = {Humans ; Female ; Middle Aged ; Carcinoma, Ductal, Breast/surgery ; Breast Neoplasms/surgery ; *Breast Implants/adverse effects ; Mammaplasty/adverse effects/instrumentation ; *Postoperative Complications/diagnosis/etiology/pathology ; *Lymphoma, Large-Cell, Anaplastic/diagnosis ; *Sarcoidosis/diagnosis/etiology/pathology ; Diagnosis, Differential ; *Seroma/diagnosis/etiology/pathology ; },
abstract = {INTRODUCTION: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare critical outcome of breast implantation that typically presents 8 to 10 years after textured-implant placement with periprosthetic seroma. Treatment consists of implant removal and capsulectomy, which is typically curative. But in rare case, malignant infiltration through the capsule results in disseminated disease, necessitating aggressive treatment with systemic chemotherapy. Sarcoidosis, a chronic systemic granulomatous disease characterized by noncaseating granulomas, is another rare cause of periprosthetic seroma.

CASE PRESENTATION: A 61-year-old female with a history of invasive ductal carcinoma of the breast status post textured implant-based reconstruction presented with late periprosthetic seroma and overlying rash. Cytology of seroma aspirate was suggestive of BIA-ALCL, and positron emission tomography-computed tomography was concerning for invasive disease. Surgical specimen pathology of the implant-capsule complex and skin punch biopsy of the overlying rash revealed only granulomatous inflammation. The patient was diagnosed with sarcoidosis and spared systemic chemotherapy treatment for disseminated BIA-ALCL.

CONCLUSIONS: BIA-ALCL should be ruled out in all cases of late periprosthetic seroma. Definitive surgical pathology is necessary to prevent misdiagnosis and inappropriate treatment of masquerading entities, such as sarcoidosis.},
}

Humans
Female
Middle Aged
Carcinoma, Ductal, Breast/surgery
Breast Neoplasms/surgery
*Breast Implants/adverse effects
Mammaplasty/adverse effects/instrumentation
*Postoperative Complications/diagnosis/etiology/pathology
*Lymphoma, Large-Cell, Anaplastic/diagnosis
*Sarcoidosis/diagnosis/etiology/pathology
Diagnosis, Differential
*Seroma/diagnosis/etiology/pathology

@article {pmid40237521,
year = {2025},
author = {Irazoki, A and Frank, E and Pham, TCP and Braun, JL and Ehrlich, AM and Haid, M and Riols, F and Hansen, CHF and Jørgensen, AR and Andersen, NR and Hidalgo-Corbacho, L and Meneses-Valdes, R and Ali, MS and Raun, SH and Modvig, JL and Gallero, S and Larsen, S and Gerhart-Hines, Z and Jensen, TE and Rohm, M and Treebak, JT and Fajardo, VA and Sylow, L},
title = {Housing Temperature Impacts the Systemic and Tissue-Specific Molecular Responses to Cancer in Mice.},
journal = {Journal of cachexia, sarcopenia and muscle},
volume = {16},
number = {2},
pages = {e13781},
pmid = {40237521},
issn = {2190-6009},
support = {0169-00013B//Independent Research Fund Denmark/ ; 101108282//European Union's Horizon program, Marie Skłodowska-Curie Actions/ ; R449-2023-1468//Lundbeck Foundation/ ; NNF23SA0084103//Novo Nordisk Foundation/ ; /ERC_/European Research Council/International ; 949017//European Union's Horizon 2020 research and innovation program/ ; },
mesh = {Animals ; Mice ; *Cachexia/etiology/metabolism ; *Temperature ; *Housing, Animal ; *Neoplasms/complications/metabolism ; Disease Models, Animal ; Male ; Thermogenesis ; Female ; },
abstract = {BACKGROUND: Cancer cachexia, affecting up to 80% of patients with cancer, is characterized by muscle and fat loss with functional decline. Preclinical research seeks to uncover the molecular mechanisms underlying cachexia to identify potential targets. Housing laboratory mice at ambient temperature induces cold stress, triggering thermogenic activity and metabolic adaptations. Yet, the impact of housing temperature on preclinical cachexia remains unknown.

METHODS: Colon 26 carcinoma (C26)-bearing and PBS-inoculated (Ctrl) mice were housed at standard (ST; 20°C-22°C) or thermoneutral temperature (TN; 28°C-32°C). They were monitored for body weight, composition, food intake and systemic factors. Upon necropsy, tissues were weighed and used for evaluation of ex vivo force and respiration, or snap frozen for biochemical assays.

RESULTS: C26 mice lost 7.5% body weight (p = 0.0001 vs. Ctrls), accounted by decreased fat mass (-35%, p < 0.0001 vs. Ctrls), showing mild cachexia irrespective of housing temperature. All C26 mice exhibited reduced force (-40%, p < 0.0001 vs. Ctrls) and increased atrogene expression (3-fold, p < 0.003 vs. Ctrls). Cancer altered white adipose tissue (WAT)'s functional gene signature (49%, p < 0.05 vs. Ctrls), whereas housing temperature reduced brown adipose tissue (BAT)'s (-78%, p < 0.05 vs. ST Ctrl). Thermogenic capacity measured by Ucp1 expression decreased upon cancer in both WAT and BAT (-93% and -63%, p < 0.0044 vs. Ctrls). Cancer-driven glucose intolerance was noted at ST (26%, p = 0.0192 vs. ST Ctrl), but restored at TN (-23%, p = 0.005 vs. ST C26). Circulating FGF21, GDF-15 and IL-6 increased in all C26 mice (4-fold, p < 0.009 vs. Ctrls), with a greater effect on IL-6 at TN (76%, p = 0.0018 vs. ST C26). Tumour and WAT Il6 mRNA levels remained unchanged, while cancer induced skeletal muscle (SkM) Il6 (2-fold, p = 0.0016 vs. Ctrls) at both temperatures. BAT Il6 was only induced in C26 mice at TN (116%, p = 0.0087 vs. ST C26). At the bioenergetics level, cancer increased SkM SERCA ATPase activity at ST (4-fold, p = 0.0108 vs. ST Ctrl) but not at TN. In BAT, O2 consumption enhanced in C26 mice at ST (119%, p < 0.03 vs. ST Ctrl) but was blunted at TN (-44%, p < 0.0001 vs. ST C26). Cancer increased BAT ATP levels regardless of temperature (2-fold, p = 0.0046 vs. Ctrls), while SERCA ATPase activity remained unchanged at ST and decreased at TN (-59%, p = 0.0213 vs. TN Ctrl).

CONCLUSIONS: In mild cachexia, BAT and SkM bioenergetics are susceptible to different housing temperatures, which influences cancer-induced alterations in glucose metabolism and systemic responses.},
}

Animals
Mice
*Cachexia/etiology/metabolism
*Temperature
*Housing, Animal
*Neoplasms/complications/metabolism
Disease Models, Animal
Male
Thermogenesis
Female

@article {pmid40234077,
year = {2025},
author = {Ajmani, A and Witheiler, DW and Kivelevitch, D},
title = {Carcinoma erysipeloides secondary to male breast cancer in a patient with BRCA1 and BRCA2 mutations: a clinical presentation and management.},
journal = {BMJ case reports},
volume = {18},
number = {4},
pages = {},
doi = {10.1136/bcr-2024-264429},
pmid = {40234077},
issn = {1757-790X},
mesh = {Humans ; Male ; *Breast Neoplasms, Male/genetics/pathology/drug therapy/complications ; *Carcinoma, Ductal, Breast/genetics/drug therapy/pathology ; Aged, 80 and over ; BRCA1 Protein/genetics ; Germ-Line Mutation ; BRCA2 Protein/genetics ; *Skin Neoplasms/secondary/genetics/drug therapy/pathology ; },
abstract = {We report a rare case of carcinoma erysipeloides (CE) in a man in his 80s. The patient exhibited a 15 year history of progressive nodularity over the right areola, accompanied by violaceous erythema extending from the right chest to both the right and left abdomen. The diagnostic workup confirmed invasive ductal carcinoma beneath the areola, intralymphatic carcinoma consistent with CE involving the regional skin and metastatic involvement of a single lymph node. The tumour tested positive for oestrogen and progesterone receptors but negative for HER2; genetic testing revealed the patient harboured germline mutations for BRCA1 and BRCA2. Oncology initiated anastrozole and palbociclib treatment, resulting in objective improvement in his breast cancer and his CE. This case highlights a unique presentation of male breast cancer with CE in the context of BRCA mutations and underscores the importance of genetic evaluation and tailored treatment in men with familial breast cancer syndromes.},
}

Humans
Male
*Breast Neoplasms, Male/genetics/pathology/drug therapy/complications
*Carcinoma, Ductal, Breast/genetics/drug therapy/pathology
Aged, 80 and over
BRCA1 Protein/genetics
Germ-Line Mutation
BRCA2 Protein/genetics
*Skin Neoplasms/secondary/genetics/drug therapy/pathology

@article {pmid40214389,
year = {2025},
author = {Kumar, W and Lohia, S and Agrawal, A and Yadav, V},
title = {A rare case of synchronous cervical squamous cell carcinoma and invasive ductal carcinoma of breast.},
journal = {Journal of cancer research and therapeutics},
volume = {21},
number = {1},
pages = {281-283},
doi = {10.4103/jcrt.jcrt_2653_23},
pmid = {40214389},
issn = {1998-4138},
mesh = {Humans ; Female ; *Uterine Cervical Neoplasms/pathology/diagnosis/therapy ; Middle Aged ; *Neoplasms, Multiple Primary/pathology/diagnosis ; *Carcinoma, Squamous Cell/pathology/diagnosis/therapy ; *Breast Neoplasms/pathology/diagnosis ; *Carcinoma, Ductal, Breast/pathology/diagnosis/therapy ; },
abstract = {Multiple primary neoplasms in the same patient can be of synchronous and metachronous types and are related to common etiologies and common genetic factors. We present a case report of 56-year-old female with the synchronous primary of breast and cervix and the unique challenges we faced in the management. Breast and cervical malignancies have contrasting risk factors and hence lies the significance of this synchronous presentation. The only identifiable commonality lies in the STK gene. We also present a review of the literature regarding similar presentations and a discussion on the possible source of origin of such a unique scenario.},
}

Humans
Female
*Uterine Cervical Neoplasms/pathology/diagnosis/therapy
Middle Aged
*Neoplasms, Multiple Primary/pathology/diagnosis
*Carcinoma, Squamous Cell/pathology/diagnosis/therapy
*Breast Neoplasms/pathology/diagnosis
*Carcinoma, Ductal, Breast/pathology/diagnosis/therapy

@article {pmid40213483,
year = {2024},
author = {Garcia-Peiro, JI and Guerrero-López, P and Hornos, F and Hueso, JL and Garcia-Aznar, JM and Santamaria, J},
title = {The Pattern of Copper Release in Copper-Based Nanoparticles Regulates Tumor Proliferation and Invasiveness in 3D Culture Models.},
journal = {Small science},
volume = {4},
number = {12},
pages = {2400206},
pmid = {40213483},
issn = {2688-4046},
abstract = {Cancer is a leading cause of death worldwide. Glioblastoma (GBM) is a major challenge in oncology due to its highly invasive nature and limited treatment options. GBM's aggressive migration beyond tumor margins and rapid tumor growth hinders success in patient treatment. Localized therapeutic delivery, such as the use of transition metals like copper, is highlighted as a novel therapeutic agent for many potential biomedical applications. Herein, it is aimed to study the effects of Cu release on the proliferation and invasiveness of cancer cells. To this end, novel copper-based nanostructures with different release patterns are designed. Using a complex 3D cell culture model to mimic the tumor microenvironment, it is shown that different patterns of copper ion release have a strong impact on GBM progression and invasiveness. The findings highlight the importance of optimizing localized copper release patterns to tailor different tumor treatment strategies. They also show the potential and suitability of 3D microchips as instruments to study the behavior of tumor spheroids. In spite of their limitations, these 3D microdevices enable a controlled and close monitoring of the influence of environmental factors (such as the presence of Cu ions) on the proliferation and invasiveness of the cells, with a better approach to reality compared to 2D models and with a more controlled environment, compared to an in vivo model.},
}

@article {pmid40203054,
year = {2025},
author = {Trombley, J and Rakozy, AI and McClear, CA and Jash, E and Csankovszki, G},
title = {Condensin IDC, DPY-21, and CEC-4 maintain X chromosome repression in C. elegans.},
journal = {PLoS genetics},
volume = {21},
number = {4},
pages = {e1011247},
pmid = {40203054},
issn = {1553-7404},
support = {P40 OD010440/OD/NIH HHS/United States ; R35 GM149543/GM/NIGMS NIH HHS/United States ; },
mesh = {Animals ; *Caenorhabditis elegans/genetics ; *X Chromosome/genetics ; *Caenorhabditis elegans Proteins/genetics/metabolism ; Dosage Compensation, Genetic/genetics ; *Adenosine Triphosphatases/genetics/metabolism ; *Multiprotein Complexes/genetics/metabolism ; *DNA-Binding Proteins/genetics/metabolism ; Male ; Histones/metabolism/genetics ; Genes, X-Linked ; Gene Expression Regulation, Developmental ; Female ; },
abstract = {Dosage compensation in Caenorhabditis elegans equalizes X-linked gene expression between XX hermaphrodites and XO males. The process depends on a condensin-containing dosage compensation complex (DCC), which binds the X chromosomes in hermaphrodites to repress gene expression by a factor of 2. Condensin IDC and an additional five DCC components must be present on the X during early embryogenesis in hermaphrodites to establish dosage compensation. However, whether the DCC's continued presence is required to maintain the repressed state once established is unknown. Beyond the role of condensin IDC in X chromosome compaction, additional mechanisms contribute to X-linked gene repression. DPY-21, a non-condensin IDC DCC component, is an H4K20me2/3 demethylase whose activity enriches the repressive histone mark, H4 lysine 20 monomethylation, on the X chromosomes. In addition, CEC-4, a protein that tethers H3K9me3-rich chromosomal regions to the nuclear lamina, also contributes to X-linked gene repression. To investigate the necessity of condensin IDC during the larval and adult stages of hermaphrodites, we used the auxin-inducible degradation system to deplete the condensin IDC subunit DPY-27. While DPY-27 depletion in the embryonic stages resulted in lethality, DPY-27 depleted larvae and adults survive. In these DPY-27 depleted strains, condensin IDC was no longer associated with the X chromosome, the X became decondensed, and the H4K20me1 mark was gradually lost, leading to X-linked gene derepression (about 1.4-fold). These results suggest that the stable maintenance of dosage compensation requires the continued presence of condensin IDC. A loss-of-function mutation in cec-4, in addition to the depletion of DPY-27 or the genetic mutation of dpy-21, led to even more significant increases in X-linked gene expression (about 1.7-fold), suggesting that CEC-4 helps stabilize repression mediated by condensin IDC and H4K20me1.},
}

Animals
*Caenorhabditis elegans/genetics
*X Chromosome/genetics
*Caenorhabditis elegans Proteins/genetics/metabolism
Dosage Compensation, Genetic/genetics
*Adenosine Triphosphatases/genetics/metabolism
*Multiprotein Complexes/genetics/metabolism
*DNA-Binding Proteins/genetics/metabolism
Male
Histones/metabolism/genetics
Genes, X-Linked
Gene Expression Regulation, Developmental
Female

@article {pmid40189767,
year = {2025},
author = {Kawata, C and Terakawa, H and Kurokawa, Y and Ohe, Y and Mohri, R and Hirata, M and Kitahara, T and Moriyama, H and Kinoshita, J and Kawashima, H and Inaki, N},
title = {[A Case of Advanced Breast Cancer with Axillary Lymph Node Metastasis Complicated by Neurofibromatosis Type 1].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {52},
number = {3},
pages = {255-257},
pmid = {40189767},
issn = {0385-0684},
mesh = {Humans ; Female ; *Breast Neoplasms/pathology/surgery/complications/drug therapy ; Middle Aged ; *Neurofibromatosis 1/complications ; Axilla ; Lymphatic Metastasis ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Lymph Node Excision ; },
abstract = {The patient was a 55-year-old woman who had been diagnosed with neurofibromatosis type 1(NF1)since she was young. A 50 mm mass with skin changes was palpated on the outside of the left breast. As a result of a detailed examination of the whole body, invasive ductal carcinoma of Luminal B like was observed, and cT4N1M0, Stage ⅢB left breast cancer was diagnosed. After preoperative chemotherapy, total left mastectomy and axillary lymph node dissection were performed. NF1 is an autosomal overt inherited disease characterized by multiple neurofibromas and pigment spots. It is called von Recklinghausen disease, and it is said that there are many complications of malignant tumors such as breast cancer, mainly nervous system tumors. In breast cancer complicated by NF1, there is a high rate of diagnosis as advanced cancer due to delayed awareness of breast masses due to unique skin lesions and a tendency to refrain from visiting medical institutions or medical examinations due to latent shame about appearance. In this study, we report 1 case of advanced breast cancer complicated by NF1.},
}

Humans
Female
*Breast Neoplasms/pathology/surgery/complications/drug therapy
Middle Aged
*Neurofibromatosis 1/complications
Axilla
Lymphatic Metastasis
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Lymph Node Excision

@article {pmid40189766,
year = {2025},
author = {Mizuyama, Y and Takashima, T},
title = {[A Case of Pulmonary Tuberculosis Developed During Neoadjuvant Chemotherapy for HER2-Enriched Breast Cancer].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {52},
number = {3},
pages = {252-254},
pmid = {40189766},
issn = {0385-0684},
mesh = {Humans ; Female ; *Breast Neoplasms/drug therapy/surgery/chemistry ; *Neoadjuvant Therapy/adverse effects ; Aged ; *Tuberculosis, Pulmonary/drug therapy/etiology ; *Antineoplastic Combined Chemotherapy Protocols/therapeutic use/adverse effects ; *Receptor, ErbB-2/analysis ; *Carcinoma, Ductal, Breast/drug therapy/surgery ; Antitubercular Agents/therapeutic use ; },
abstract = {In the 1990s, the number of newly registered tuberculosis patients in Japan was about 40,000 per year. It has been gradually decreasing and the number of new patients became 10,235 in 2022 with the incidence rate of 8.2 per 100,000 population. However it is still occasionally encountered even in recent years. Herein, we report a case of human epidermal growth factor receptor 2(HER2)-enriched breast cancer patient developed pulmonary tuberculosis just after finishing neoadjuvant chemotherapy and was successfully treated for both disease simultaneously. A 68 years old woman presented due to right breast mass was diagnosed with hormonal receptor-negative, HER2-positive invasive ductal carcinoma. Neoadjuvant chemotherapy with paclitaxel, trastuzumab and pertuzumab was started. After 12 courses of chemotherapy, CT scan revealed disappearance of the right breast tumor and infiltrating shadow in the left lower lung field. Sputum polymerase chain reaction test for tuberculosis was positive. Anti-tuberculosis chemotherapy was started. Four days after starting isoniazid, partial mastectomy was performed under local anesthesia and radiation therapy for the breast was omitted. There are no signs of recurrence of breast cancer and pulmonary tuberculosis for 5 years. Chemotherapy for breast cancer and premedication with corticosteroid may have inhibited cellular immunity, causing endogenous relapse of tuberculosis.},
}

Humans
Female
*Breast Neoplasms/drug therapy/surgery/chemistry
*Neoadjuvant Therapy/adverse effects
Aged
*Tuberculosis, Pulmonary/drug therapy/etiology
*Antineoplastic Combined Chemotherapy Protocols/therapeutic use/adverse effects
*Receptor, ErbB-2/analysis
*Carcinoma, Ductal, Breast/drug therapy/surgery
Antitubercular Agents/therapeutic use

@article {pmid40186732,
year = {2025},
author = {Stamey, T and Armel, K and Ju, AW and Chen, S and Navaid, M and Bhatt, A and Larkins, MC},
title = {Treatment outcomes and comparative survival analysis of intraductal carcinoma of the prostate.},
journal = {International urology and nephrology},
volume = {},
number = {},
pages = {},
pmid = {40186732},
issn = {1573-2584},
abstract = {PURPOSE: Intraductal carcinoma of the prostate is a rare subset of prostate cancer, for which no consensus treatment guidelines exist. We seek to investigate treatment and survival outcomes for IDC-P in the context of current NCCN guidelines.

METHODS: The Surveillance, Epidemiology, and End Results (SEER) database was queried to identify patients with intraductal carcinoma of the prostate diagnosed between 2000 and 2020. Cox regression analysis and log-rank comparisons of both overall and cause-specific survival over 5- and 10-year timeframes were conducted.

RESULTS: 945 patients were identified. Cox regression analysis demonstrated treatment with unimodal surgery (hazard ratio (HR) = 3.70, p = 0.005) was associated with decreased 10-year cause-specific survival, while unimodal treatment with radiotherapy was associated with decreased 5- and 10-year overall survival (HR = 2.14, p = 0.025; HR = 2.16, p = 0.005, respectively). Univariate survival subanalysis of treatment regimens demonstrated decreased 5-year cause-specific (p = 0.004) and overall (p = 0.019) survival among patients that received only radiotherapy as treatment. Radical prostatectomy alone was non-inferior to radical prostatectomy with adjuvant radiotherapy in the context of 10-year overall survival (90% vs 80%; p = 0.58).

CONCLUSION: Differences in both 5- and 10-year overall survival and cause-specific survival were present among patients diagnosed with IDC-P. Treatment with unimodal radiotherapy among patients with IDC-P was associated with decreased survival compared to treatment with radical prostatectomy ± adjuvant radiotherapy, while radical prostatectomy alone was non-inferior to radical prostatectomy with adjuvant radiotherapy. Further research into the risk stratification and optimal treatment of these patients is warranted.},
}

@article {pmid40156779,
year = {2024},
author = {Arinola, G and Onifade, AA and Adigun, K and Oshingbesan, MB},
title = {Review of immune-metabolic studies and re-purposed treatments of Nigerian COVID-19 patients: A pointer to mild, gender- and age-based status of admitted patients.},
journal = {Nigerian journal of physiological sciences : official publication of the Physiological Society of Nigeria},
volume = {39},
number = {2},
pages = {177-183},
doi = {10.54548/njps.v39i2.2},
pmid = {40156779},
issn = {0794-859X},
mesh = {Humans ; *COVID-19/immunology/epidemiology ; Nigeria/epidemiology ; SARS-CoV-2/immunology ; Age Factors ; Female ; Male ; COVID-19 Drug Treatment ; Sex Factors ; Severity of Illness Index ; },
abstract = {When Severe Acute Respiratory human Coronavirus 2 (SARS-hCOV 2) infection began in December 2019, detailed knowledge about the virus was lacking. This included non-availability of anti-viral treatment or vaccine, no knowledge of virus-human interaction, and lack of prognostic factors for stages of illness among others. A publication in Nigerian Journal of Physiological Sciences (2020). 35: 20-25 titled "Immune Responses During Human Coronavirus Infection: Suggestions For Future Studies" adduced investigations into immune parameters of COVID-19 patients so as to throw more light on the immunopathogenesis of SAR-CoV-2 infection, in order to create avenue for the development of vaccines or herd immunity. This present publication is a review of studies carried out on COVID-19 patients in one Infectious Diseases Center (I.D.C), Ibadan, Nigeria as a response to the gaps in knowledge raised in above mentioned publication. Cummulatively, immune-metabolic studies from this IDC revealed mild, age- and sex-dependent status of COVID-19 in patients admitted into this center. Thus, explaining the basis for the effectiveness of adopted re-purposed drugs (chloroquine or hydroxychloroquine, zinc, vitamins C and D and or antibiotics), physiotherapy and nutritional support used for the management of admitted COVID-19 patients. Also, this paper vindicated that inflammation was heightened during SARS-CoV 2 infection; therefore therapeutic interventions to control the inflammatory processes, oxidative stress, antibodies against structural and non-structural proteins or blocks receptor sites were proposed. In addition, development of herd immunity and efficacy of COVID-19 vaccines (Astrazeneca and Moderna) were elucidated in general population. However, study to determine host genetic factors in hCoV infection was lacking. This review concluded that interdisciplinary collaborative approach will be useful in the management of future emerging or re-emerging infection.},
}

Humans
*COVID-19/immunology/epidemiology
Nigeria/epidemiology
SARS-CoV-2/immunology
Age Factors
Female
Male
COVID-19 Drug Treatment
Sex Factors
Severity of Illness Index

@article {pmid40144454,
year = {2025},
author = {Arcanjo, AM and de Souza, AF and de Souza Quedas, EP and de Menezes Correia-Deur, JE and Ferreira, DL and de Almeida Toledo, SP and Lourenço, DM},
title = {Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.},
journal = {JBMR plus},
volume = {9},
number = {4},
pages = {ziaf026},
pmid = {40144454},
issn = {2473-4039},
abstract = {Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes are, respectively, designated as PHOAR1 and PHOAR2. Recently, a dominant inherited form (PHOAD) was identified in SLCO2A1 heterozygotes whose PHO penetrance is widely unknown, and data on phenotype are markedly limited. Our aim was to reveal the penetrance and extend/refine data on phenotype of SLCO2A1 heterozygotes. Both genes were sequenced using Sanger sequencing. The 4 probands had a typical complete form (CF) of PHO. Mean ages at symptom onset and clinical diagnosis were, respectively, 18.5 ± 2.7 (16-22) years and 22 ± 3.4 (18-26) years. They were homozygotes for SLCO2A1 (p.Q188R, p.C420F, p.A176T; p.G104[*]) PVs; 2 were novel variants. We focused on 14 SLCO2A1 heterozygous screened relatives from 3 families: 5 elderly individuals (mean age: 78 ± 6.7 [72-86] years) of the parental generation were affected, 2 by incomplete form (IF) and 3 with isolated digital clubbing (IDC). Combining our 14 carriers and 33 reported so far, the estimated overall PHO penetrance was 70%, being significantly higher in men (83% vs 50%; p = .024) and individuals carrying truncated SLCO2A1 PVs (88% vs 53%; p = .053). In turn, the periostosis penetrance rate in women was 28% (5/18), including our oldest patient (86 years). In the probands, the predominant phenotypes were CF (64%) and IF (36%). Among screened carriers, phenotypes were IDC (41%) followed by IF and fruste form (FF) (28%, each), whereas IDC and FF were the predominant phenotypes in screened men and women, respectively. As a novelty, we uncovered an incomplete penetrance of PHO in SLCO2A1 heterozygotes, with higher rates in elderly individuals, males, and those with truncated PVs. Regarding phenotype, PHO is more pronounced in males, periostosis is likely more frequent in females than previously documented in PHOAR2, and IDC may represent a distinct clinical feature in SLCO2A1 heterozygotes.},
}

@article {pmid40124702,
year = {2025},
author = {Sahoo, AS and Salman, M and Singh, B and Weston-Petrides, G and Ragad, L and Elayyan, R},
title = {Scout In, Scout out: Savi scout reflector traversing a dilated duct to the nipple in breast cancer localisation-a case report.},
journal = {Oxford medical case reports},
volume = {2025},
number = {3},
pages = {omae196},
pmid = {40124702},
issn = {2053-8855},
abstract = {INTRODUCTION: Savi scout system is being widely used for localising and excising breast tumours. While the migration of scout reflectors has been documented, this is the first case of a Savi Scout reflector migrating through a dilated duct near the lesion and coming out of the nipple.

CASE PRESENTATION: A 56-year-old postmenopausal woman with a history of right breast intraductal papilloma which transformed to Grade II Invasive Ductal Carcinoma (IDC) has a Savi Scout reflector placed in the tumour. However, it migrated through a dilated duct and emerged at the nipple, causing severe pain. The reflector was then surgically removed, and the patient subsequently underwent wide local excision with skin marker localisation.

CONCLUSION: Anatomical variations such as presence of dilated ducts need to be considered before placing scout reflectors. Appropriate positioning would prevent them from migrating through such ducts avoiding patient discomfort and further procedures for localisation.},
}

@article {pmid40119428,
year = {2025},
author = {Fortunato, A and Mallo, D and Cisneros, L and King, LM and Khan, A and Curtis, C and Ryser, MD and Lo, JY and Hall, A and Marks, JR and Hwang, ES and Maley, CC},
title = {Evolutionary measures show that recurrence of DCIS is distinct from progression to breast cancer.},
journal = {Breast cancer research : BCR},
volume = {27},
number = {1},
pages = {43},
pmid = {40119428},
issn = {1465-542X},
support = {U54 CA217376/NH/NIH HHS/United States ; U2C CA233254/NH/NIH HHS/United States ; ADHS18-198847//Arizona Biomedical Research Commission/ ; U54 CA217376/CA/NCI NIH HHS/United States ; BC132057//Congressionally Directed Medical Research Programs/ ; },
mesh = {Humans ; Female ; *Carcinoma, Intraductal, Noninfiltrating/genetics/pathology ; *Breast Neoplasms/genetics/pathology ; *Neoplasm Recurrence, Local/genetics/pathology ; *Disease Progression ; Middle Aged ; Biomarkers, Tumor/genetics ; Aged ; Cross-Sectional Studies ; Exome Sequencing ; Adult ; Longitudinal Studies ; },
abstract = {BACKGROUND: Progression from pre-cancers like ductal carcinoma in situ (DCIS) to invasive disease (cancer) is driven by somatic evolution and is altered by clinical interventions. We hypothesized that genetic and/or phenotypic intra-tumor heterogeneity would predict clinical outcomes for DCIS since it serves as the substrate for natural selection among cells.

METHODS: We profiled two samples from two geographically distinct foci from each DCIS in both cross-sectional (n = 119) and longitudinal cohorts (n = 224), with whole exome sequencing, low-pass whole genome sequencing, and a panel of immunohistochemical markers.

RESULTS: In the longitudinal cohorts, the only statistically significant associations with time to non-invasive DCIS recurrence were the combination of treatment (lumpectomy only vs mastectomy or lumpectomy with radiation, HR 12.13, p = 0.003, Wald test with FDR correction), ER status (HR 0.16 for ER+ compared to ER-, p = 0.0045), and divergence in SNVs between the two samples (HR 1.33 per 10% divergence, p = 0.018). SNV divergence also distinguished between pure DCIS and DCIS synchronous with invasive disease in the cross-sectional cohort. In contrast, the only statistically significant associations with time to progression to invasive disease were the combination of the width of the surgical margin (HR 0.67 per mm, p = 0.043) and the number of mutations that were detectable at high allele frequencies (HR 1.30 per 10 SNVs, p = 0.02). No predictors were significantly associated with both DCIS recurrence and progression to invasive disease, suggesting that the evolutionary scenarios that lead to these clinical outcomes are markedly different.

CONCLUSIONS: These results imply that recurrence with DCIS is a clinical and biological process different from invasive progression.},
}

Humans
Female
*Carcinoma, Intraductal, Noninfiltrating/genetics/pathology
*Breast Neoplasms/genetics/pathology
*Neoplasm Recurrence, Local/genetics/pathology
*Disease Progression
Middle Aged
Biomarkers, Tumor/genetics
Aged
Cross-Sectional Studies
Exome Sequencing
Adult
Longitudinal Studies

@article {pmid40055309,
year = {2025},
author = {El Bounkari, O and Zan, C and Yang, B and Ebert, S and Wagner, J and Bugar, E and Kramer, N and Bourilhon, P and Kontos, C and Zarwel, M and Sinitski, D and Milic, J and Jansen, Y and Kempf, WE and Sachs, N and Maegdefessel, L and Ji, H and Gokce, O and Riols, F and Haid, M and Gerra, S and Hoffmann, A and Brandhofer, M and Avdic, M and Bucala, R and Megens, RTA and Willemsen, N and Messerer, D and Schulz, C and Bartelt, A and Harm, T and Rath, D and Döring, Y and Gawaz, M and Weber, C and Kapurniotu, A and Bernhagen, J},
title = {An atypical atherogenic chemokine that promotes advanced atherosclerosis and hepatic lipogenesis.},
journal = {Nature communications},
volume = {16},
number = {1},
pages = {2297},
pmid = {40055309},
issn = {2041-1723},
mesh = {Animals ; *Lipogenesis/genetics ; *Atherosclerosis/metabolism/pathology/genetics ; Mice ; *Liver/metabolism/pathology ; Receptors, CXCR4/metabolism ; Humans ; *Macrophage Migration-Inhibitory Factors/metabolism/genetics ; Male ; *Intramolecular Oxidoreductases/metabolism/genetics ; *Chemokines/metabolism/genetics ; Mice, Inbred C57BL ; Mice, Knockout, ApoE ; Antigens, Differentiation, B-Lymphocyte/metabolism ; Signal Transduction ; Hepatocytes/metabolism ; Mice, Knockout ; Apolipoproteins E/genetics ; Histocompatibility Antigens Class II ; },
abstract = {Atherosclerosis is the underlying cause of myocardial infarction and ischemic stroke. It is a lipid-triggered and cytokine/chemokine-driven arterial inflammatory condition. We identify D-dopachrome tautomerase/macrophage migration-inhibitory factor-2 (MIF-2), a paralog of the cytokine MIF, as an atypical chemokine promoting both atherosclerosis and hepatic lipid accumulation. In hyperlipidemic Apoe[-/-] mice, Mif-2-deficiency and pharmacological MIF-2-blockade protect against lesion formation and vascular inflammation in early and advanced atherogenesis. MIF-2 promotes leukocyte migration, endothelial arrest, and foam-cell formation, and we identify CXCR4 as a receptor for MIF-2. Mif-2-deficiency in Apoe[-/-] mice leads to decreased plasma lipid levels and suppressed hepatic lipid accumulation, characterized by reductions in lipogenesis-related pathways, tri-/diacylglycerides, and cholesterol-esters, as revealed by hepatic transcriptomics/lipidomics. Hepatocyte cultures and FLIM-FRET-microscopy suggest that MIF-2 activates SREBP-driven lipogenic genes, mechanistically involving MIF-2-inducible CD74/CXCR4 complexes and PI3K/AKT but not AMPK signaling. MIF-2 is upregulated in unstable carotid plaques from atherosclerotic patients and its plasma concentration correlates with disease severity in patients with coronary artery disease. These findings establish MIF-2 as an atypical chemokine linking vascular inflammation to metabolic dysfunction in atherosclerosis.},
}

Animals
*Lipogenesis/genetics
*Atherosclerosis/metabolism/pathology/genetics
Mice
*Liver/metabolism/pathology
Receptors, CXCR4/metabolism
Humans
*Macrophage Migration-Inhibitory Factors/metabolism/genetics
Male
*Intramolecular Oxidoreductases/metabolism/genetics
*Chemokines/metabolism/genetics
Mice, Inbred C57BL
Mice, Knockout, ApoE
Antigens, Differentiation, B-Lymphocyte/metabolism
Signal Transduction
Hepatocytes/metabolism
Mice, Knockout
Apolipoproteins E/genetics
Histocompatibility Antigens Class II

@article {pmid40053423,
year = {2025},
author = {Pecora, V and Samynathan, A and Rosenfeld, A and Tariq, Z and Saardi, K},
title = {Cutaneous metastases mimicking hidradenitis suppurativa: a diagnostic challenge.},
journal = {Wounds : a compendium of clinical research and practice},
volume = {37},
number = {2},
pages = {63-67},
doi = {10.25270/wnds/24155},
pmid = {40053423},
issn = {1943-2704},
mesh = {Humans ; *Hidradenitis Suppurativa/diagnosis/pathology ; Female ; *Skin Neoplasms/secondary/diagnosis/pathology ; Diagnosis, Differential ; *Breast Neoplasms/pathology ; Middle Aged ; Adult ; },
abstract = {BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, recurrent, and debilitating inflammatory condition characterized by abscesses, comedones, and nodules. The heterogeneous presentation of HS often leads to diagnostic challenges, with clinical mimics such as cutaneous metastases (CMs) being of particular importance. CMs can present as initial manifestations of metastatic disease, necessitating accurate identification to guide potentially lifesaving treatment. However, the diagnostic and therapeutic approaches for HS and CMs differ significantly, underscoring the need for prompt and accurate differentiation.

CASE REPORT: This report presents 3 cases of primary malignancies in which CMs mimicked HS. Case 1 had diffuse large B-cell lymphoma; case 2 had a history of right breast atypical ductal hyperplasia and borderline low-grade ductal carcinoma in situ, along with triple-negative invasive ductal carcinoma of the left breast with extensive metastasis to the iliac bone and lung; and case 3 had invasive mammary carcinoma of the right breast with axillary lymph node involvement. All 3 patients presented with nodular lesions resembling HS, but further investigation, including molecular testing, confirmed the diagnosis of CMs.

CONCLUSION: The clinical overlap between HS and CMs, which can present with similar features such as nodules, abscesses, and draining lesions, underscores the critical importance of distinguishing these entities. Despite their similar clinical appearance, HS and CMs have vastly different management protocols. Accurate diagnosis of CMs enables timely and appropriate intervention, which in turn aids in optimizing clinical outcomes and ensuring the use of effective treatment strategies for affected patients.},
}

Humans
*Hidradenitis Suppurativa/diagnosis/pathology
Female
*Skin Neoplasms/secondary/diagnosis/pathology
Diagnosis, Differential
*Breast Neoplasms/pathology
Middle Aged
Adult

@article {pmid40042344,
year = {2025},
author = {Raeisi, N and Saber Tanha, A and Aryana, K and Akbari Oryani, M and Barashki, S},
title = {99m Tc-FAPI-46 Uptake in Simultaneous Occurrence of Benign Thyroid Nodule and Mixed-Mucinous-Invasive Ductal Breast Carcinoma.},
journal = {Clinical nuclear medicine},
volume = {50},
number = {5},
pages = {e297-e299},
doi = {10.1097/RLU.0000000000005729},
pmid = {40042344},
issn = {1536-0229},
mesh = {Humans ; Female ; Aged ; *Breast Neoplasms/diagnostic imaging/complications/pathology/metabolism ; *Thyroid Nodule/diagnostic imaging/complications/metabolism ; *Carcinoma, Ductal, Breast/diagnostic imaging/complications ; *Organotechnetium Compounds/metabolism ; Biological Transport ; Positron Emission Tomography Computed Tomography ; Neoplasm Invasiveness ; Radionuclide Imaging ; },
abstract = {We present a case of a 65-year-old woman diagnosed with mixed mucinous-invasive ductal carcinoma, a rare subtype of breast cancer. Utilizing 99m Tc-FAPI-46 scintigraphy, we observed a high target-to-background ratio in the breast mass and metastatic axillary lymph nodes. Notably, a benign follicular nodule was also detected in the thyroid which showed absent 99m Tc-FAPI uptake. Our findings suggest that 99m Tc-FAPI-46 shares similar characteristics with 68 Ga-FAPI and may outperform 18 F-FDG PET/CT in mucinous breast cancer. This case highlights the potential of FAPI as a predictive biomarker for malignancy and its role in benign findings.},
}

Humans
Female
Aged
*Breast Neoplasms/diagnostic imaging/complications/pathology/metabolism
*Thyroid Nodule/diagnostic imaging/complications/metabolism
*Carcinoma, Ductal, Breast/diagnostic imaging/complications
*Organotechnetium Compounds/metabolism
Biological Transport
Positron Emission Tomography Computed Tomography
Neoplasm Invasiveness
Radionuclide Imaging

@article {pmid40039929,
year = {2024},
author = {Rukhsana, and Khan, WA and Conway, M and Lee, YJ and Khattak, AM},
title = {BCAT2 Expression in IDC Breast Cancer subtypes: A Weighted Feature-Based Approach to Identify and Rank Associated Genes Across Public Datasets.},
journal = {Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference},
volume = {2024},
number = {},
pages = {1-4},
doi = {10.1109/EMBC53108.2024.10782766},
pmid = {40039929},
issn = {2694-0604},
mesh = {Humans ; *Breast Neoplasms/genetics/classification ; Female ; *Transaminases/genetics/metabolism ; *Gene Expression Regulation, Neoplastic ; *Carcinoma, Ductal, Breast/genetics ; Gene Expression Profiling/methods ; Databases, Genetic ; },
abstract = {It has been observed that breast cancer is associated with dysregulation of several metabolic pathways that produce metabolite addiction, such as the dependence on glutamine for tumor development. These discoveries might be applied to personalized treatment of this heterogeneous illness by employing specific gene expression or metabolites in cancer therapy. BCAT1 and BCAT2 encode the human branched-chain aminotransferase proteins (hBCAT) involved in cellular metabolism process. Here BCAT2 is exploited through weighted feature-based approach to identify and rank associated genes across public datasets of breast cancer invasive ductal carcinoma patients. BCAT2 lower expression was observed to have the worst prognosis, and BCAT2 gene expression which might be associated with triggering the risk, are ranked, and visualized in different subtypes of breast cancer. These findings give a strong clue to further investigate through experimental approach.},
}

Humans
*Breast Neoplasms/genetics/classification
Female
*Transaminases/genetics/metabolism
*Gene Expression Regulation, Neoplastic
*Carcinoma, Ductal, Breast/genetics
Gene Expression Profiling/methods
Databases, Genetic

@article {pmid40038709,
year = {2025},
author = {Reunanen, VLJ and Jokinen, TS and Lilja-Maula, L and Hytönen, MK and Lappalainen, AK},
title = {Allelic frequency of 12-FGF4RG and the association between the genotype with number of calcified intervertebral discs visible on radiographs in Coton de Tuléar and French Bulldog breeds.},
journal = {BMC veterinary research},
volume = {21},
number = {1},
pages = {140},
pmid = {40038709},
issn = {1746-6148},
mesh = {Animals ; Dogs ; *Dog Diseases/genetics/diagnostic imaging ; *Intervertebral Disc Degeneration/genetics/diagnostic imaging/veterinary ; Genotype ; Male ; Female ; *Gene Frequency ; Retrospective Studies ; Radiography/veterinary ; Intervertebral Disc/diagnostic imaging/pathology ; *Calcinosis/diagnostic imaging/genetics/veterinary ; Breeding ; Prospective Studies ; *Fibroblast Growth Factor 4/genetics ; Intervertebral Disc Displacement ; },
abstract = {BACKGROUND: Intervertebral disc disease (IVDD) is a major welfare issue in chondrodystrophic dogs. It is a consequence of chondroid metaplasia of the nucleus pulposus, leading to premature degeneration and calcification of the intervertebral discs (IVDs). Radiographic grading based on the number of calcified discs visible on radiograph (CDVR) between the ages of 24-48 months is an established method for selective breeding against IVDD in dogs. Premature IVD degeneration has a genetic background, and a FGF4 retrogene insertion on chromosome 12 (12-FGF4RG) has been shown to be involved. The aim of this study was to determine the 12-FGF4RG allele frequency and genotype proportions, and the influence of the 12-FGF4RG genotype on number of CDVR in a study population of young adult Coton de Tuléars and French Bulldogs. In this combined prospective and retrospective analytical study, we investigated dogs radiographically screened at 24-48 months of age. The first dataset consisted of 12-FGF4RG genotyping results of 465 Coton de Tuléars and intervertebral disc calcification (IDC) grading results (no, mild, moderate, or severe) for 222 of them. The second dataset included 12-FGF4RG genotypes and IDC grading results (no or severe) of 81 French Bulldogs.

RESULTS: We observed 12-FGF4RG homozygous, heterozygous and wildtype individuals in both studied breeds. The 12-FGF4RG allele frequencies were also lower than previously reported in the studied breeds and Coton de Tuléars had lower allele frequency (0.35) than French Bulldogs (0.85). The distribution of IDC grading results were 59% no, 16% mild, 9% moderate and 16% severe in Coton de Tuléars and 59% no and 41% severe in French Bulldogs. In both breeds, every copy of the 12-FGF4RG allele significantly increased the risk for a higher number of CDVR, indicating incomplete dominance.

CONCLUSIONS: Our results confirm the significant association between the 12-FGF4RG allele and the number of CDVR and IDC grade in two different chondrodystrophic breeds in age-controlled cohorts of young adult dogs. Our results also suggest that radiographic screening of CDVR and genetic testing of 12-FGF4RG could be used to breed against IVD degeneration predisposing to IVDD.},
}

Animals
Dogs
*Dog Diseases/genetics/diagnostic imaging
*Intervertebral Disc Degeneration/genetics/diagnostic imaging/veterinary
Genotype
Male
Female
*Gene Frequency
Retrospective Studies
Radiography/veterinary
Intervertebral Disc/diagnostic imaging/pathology
*Calcinosis/diagnostic imaging/genetics/veterinary
Breeding
Prospective Studies
*Fibroblast Growth Factor 4/genetics
Intervertebral Disc Displacement

@article {pmid40016543,
year = {2025},
author = {Botty van den Bruele, A and Ren, Y and Thomas, SM and Ntowe, KW and Rosenberger, LH and Menendez, C and Grimm, LJ and Chiba, A and Plichta, JK},
title = {High risk surveillance MRI may not be necessary in BRCA1/2 mutation carriers over 70 years old.},
journal = {Breast cancer research and treatment},
volume = {211},
number = {2},
pages = {421-429},
pmid = {40016543},
issn = {1573-7217},
support = {P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; P30CA014236/NH/NIH HHS/United States ; },
mesh = {Humans ; Female ; *Breast Neoplasms/genetics/diagnostic imaging/epidemiology/diagnosis/pathology ; Middle Aged ; Aged ; Adult ; *Magnetic Resonance Imaging/methods ; *Mutation ; *BRCA2 Protein/genetics ; *BRCA1 Protein/genetics ; Heterozygote ; Genetic Predisposition to Disease ; Retrospective Studies ; Mammography ; Genetic Testing ; Early Detection of Cancer ; Age Factors ; Genes, BRCA1 ; Genes, BRCA2 ; },
abstract = {BACKGROUND: The risk of developing breast cancer up to age 80 for women with BRCA1/2 mutations is approximately 69-72%. The risk estimates, however, become labile in the later years of life. Many older BRCA1/2 mutation carriers who have not developed breast cancer continue to undergo high-risk surveillance. We evaluated breast cancers in women age ≥ 70 and identified which modality diagnosed the malignancy.

METHODS: Females with BRCA1/2 mutations identified between 1996 and 2022 were included in this single institution retrospective review. The cohort was divided by age at BRCA1/2 diagnosis (30-59, 60-69 & ≥ 70). The number of malignancies and imaging modality which led to the diagnosis were recorded.

RESULTS: There were 316 patients with BRCA1/2 mutations: 266/316 (84.2%) were 30-59 years old at the time of genetic testing, 35/316 (11.1%) were 60-69, and 15/316 (4.7%) were ≥ 70. Median follow-up was 57 months (IQR 21.6-114.6). There were 178 (56.3%) breast malignancies diagnosed; 161/266 (60.5%) age 30-59, 11/35 (31.4%) ages 60-69, and 6/15 (40%) age ≥ 70 (p = 0.002). Of patients with a malignant diagnosis (n = 178), 140/178 (78.7%) had their cancers discovered on either screening or diagnostic mammogram, 30/178 (16.9%) by MRI, 1 /178 (0.6%) on ultrasound, and 1/178 (0.6%) was discovered on surgical pathology. Of the breast cancers diagnosed in patients age ≥ 70, 66.7% (4/6) were found on mammogram.

CONCLUSIONS: In women ≥ 70 with BRCA1/2 mutations, mammograms may be sufficient surveillance. Given that a number of older BRCA1/2 carriers may never develop breast cancer, our data supports individualized care and consideration for de-escalated surveillance in those ≥ 70.},
}

Humans
Female
*Breast Neoplasms/genetics/diagnostic imaging/epidemiology/diagnosis/pathology
Middle Aged
Aged
Adult
*Magnetic Resonance Imaging/methods
*Mutation
*BRCA2 Protein/genetics
*BRCA1 Protein/genetics
Heterozygote
Genetic Predisposition to Disease
Retrospective Studies
Mammography
Genetic Testing
Early Detection of Cancer
Age Factors
Genes, BRCA1
Genes, BRCA2

@article {pmid40013144,
year = {2025},
author = {Li, X and Wu, N and Wang, C and Pei, B and Ma, X and Xie, J and Yang, W},
title = {NALCN expression is down-regulated and associated with immune infiltration in gastric cancer.},
journal = {Frontiers in immunology},
volume = {16},
number = {},
pages = {1512107},
pmid = {40013144},
issn = {1664-3224},
mesh = {Humans ; *Stomach Neoplasms/immunology/genetics/pathology/metabolism ; Cell Line, Tumor ; *Gene Expression Regulation, Neoplastic ; *Lymphocytes, Tumor-Infiltrating/immunology/metabolism ; Down-Regulation ; Tumor Microenvironment/immunology ; Female ; Cell Proliferation ; Male ; },
abstract = {BACKGROUND: NALCN has been identified as a tumor suppressor gene, and its role in human cancer progression has garnered significant attention. However, there is a paucity of experimental studies specifically addressing the relationship between NALCN and immune cell infiltration in gastric cancer (GC).

METHODS: The expression levels of NALCN in tumor tissues, peripheral blood and gastric cancer cells lines from patients with GC were assessed using RNA sequencing, immunohistochemistry (IHC) staining and RT-qPCR. Data obtained from the Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases were utilized to investigate the correlation between NALCN expression and immune cell infiltration in GC. Subsequently, the relationship between NALCN expression and infiltrating immune cells in GC tissues was examined through immunofluorescence method. Additionally, in vitro experiments were conducted to evaluate the impact of NALCN knockdown on T cells function in GC cell lines.

RESULTS: RNA sequencing analysis revealed that NALCN expression was significantly downregulated in GC tissues. Specifically, NALCN levels were lower in GC tumor tissues and plasma compared to adjacent non-tumor tissues and healthy controls. Consistent with these findings, the expression trend of NALCN mRNA in the GEO database mirrored the experimental results. Mechanistically, NALCN knockdown markedly enhanced cell proliferation, colony formation and migration while reducing apoptosis rates in AGS and GES-1 cells. Analysis of the TCGA database indicated a positive correlation between NALCN expression and the infiltration of B cells, cytotoxic cells, immature dendritic cells (iDC) cells, CD8[+] T cells, and others in GC tissue. Conversely, Th17 and Th2 cells infiltration exhibited a negative correlation with NALCN expression. Immunofluorescence staining confirmed that B cells and CD8 T cells were more abundant in GC tumor tissues with high NALCN expression, whereas Th17 and Th2 cells were less prevalent. Subsequently, we co-cultured GC cells transfected with NALCN knockdown or control vectors along with their supernatants with T cells. The results demonstrated that NALCN knockdown in GC cells or their supernatants inhibited T cell proliferation compared to control conditions. Moreover, NALCN may play a role in glucose and glutamine uptake.

CONCLUSIONS: NALCN facilitates immune cell aggregation in GC and has potential as a biomarker for immune infiltration.},
}

Humans
*Stomach Neoplasms/immunology/genetics/pathology/metabolism
Cell Line, Tumor
*Gene Expression Regulation, Neoplastic
*Lymphocytes, Tumor-Infiltrating/immunology/metabolism
Down-Regulation
Tumor Microenvironment/immunology
Female
Cell Proliferation
Male

@article {pmid40011966,
year = {2025},
author = {Pirooznia, P and Meighani, EM and Ghaffari, F},
title = {Exploring new frontiers in oncofertility preservation: a case of ovarian stimulation during pregnancy.},
journal = {Journal of ovarian research},
volume = {18},
number = {1},
pages = {39},
pmid = {40011966},
issn = {1757-2215},
mesh = {Humans ; Female ; *Ovulation Induction/methods ; Pregnancy ; *Fertility Preservation/methods ; Adult ; *Breast Neoplasms/therapy/complications/drug therapy ; Letrozole ; *Pregnancy Complications, Neoplastic ; },
abstract = {BACKGROUND: The standard treatment for Pregnancy-Associated Breast Cancer (PABC) includes surgery and neoadjuvant chemotherapy, which can impair fertility, emphasizing the critical need for fertility preservation in these patients. This case report discusses a breast cancer patient who was found to be pregnant shortly after starting treatment. Despite the pregnancy and increased levels of βHCG and progesterone, the ovarian stimulation cycle yielded a satisfactory number of mature oocytes and high-quality embryos.

CASE PRESENTATION: A 40-year-old woman, G1Ab1 (Gravida1Abortion1), who was diagnosed with Invasive Ductal Carcinoma with negative receptors (Estrogen Receptor, Progesterone Receptor, and Human Epidermal Growth Factor Receptor 2) was referred to the oncofertility unit of the Royan Infertility Center for fertility preservation prior to the commencement of chemotherapy. Following necessary consultations and procedures, and confirming a negative pregnancy test, a random start letrozole-based protocol was initiated for ovarian stimulation. During the cycle, a positive pregnancy test was encountered. Despite the positive test, the cycle continued, and on day 13 of the cycle, triggering was performed with a GnRH agonist. A puncture was performed 36 h later, yielding 12 oocytes and 8 embryos.

CONCLUSION: This case highlights the feasibility of adapting random-start ovarian stimulation protocols during pregnancy, warranting further investigation in similar clinical scenarios.},
}

Humans
Female
*Ovulation Induction/methods
Pregnancy
*Fertility Preservation/methods
Adult
*Breast Neoplasms/therapy/complications/drug therapy
Letrozole
*Pregnancy Complications, Neoplastic

@article {pmid39985623,
year = {2025},
author = {Randall Armel, S and Malcolmson, J and Volenik, A and Maganti, M and Watkins, N and Charames, GS and McCuaig, J},
title = {Genetic counseling referral rates and genetic testing outcomes in women with young breast cancer: a 20-year Canadian review.},
journal = {Breast cancer research and treatment},
volume = {211},
number = {2},
pages = {321-330},
pmid = {39985623},
issn = {1573-7217},
mesh = {Humans ; Female ; *Breast Neoplasms/genetics/epidemiology/diagnosis/pathology ; *Referral and Consultation/statistics & numerical data ; *Genetic Counseling/statistics & numerical data ; *Genetic Testing/statistics & numerical data ; Adult ; Canada/epidemiology ; Retrospective Studies ; Young Adult ; Genetic Predisposition to Disease ; },
abstract = {PURPOSE: Despite guidelines recommending genetic testing for all cases of very young breast cancer (VYBC), poor uptake has been reported. This study aimed to examine genetic testing referral rates and outcomes over a 20-year period within the Canadian context.

METHODS: A retrospective chart review of all incident VYBC cases (at or below 35 years of age) between January 1, 2000 and December 31, 2019 was conducted. Descriptive statistics were used to summarize demographic factors and logistic regression analyses were performed to identify the predictors associated with referral for genetic counseling and positive genetic test results.

RESULTS: 628 women were identified with VYBC. Most women presented with stage 2 (42%), hormone receptor-positive (HR +) and HER2-negative (54%) invasive ductal carcinoma (94%). Over the study period, referral rates increased from 44 to 84%. Of women initially tested for BRCA1/BRCA2, only 21% were referred for updated panel testing. Among those tested, 19% had a pathogenic variant, 21% of whom reported no family history of cancer. Predictors of referral included stage 0-2 disease while predictors of positive test results included a second breast cancer diagnosis and positive family history.

CONCLUSION: Despite guidelines based on age alone, barriers to referral persist. Results of this study suggest the need for new models of care that ensure equitable access to genetic testing for all women diagnosed with VYBC regardless of family history, ethnicity, or disease stage. As genetic testing criteria evolve, protocols must address these barriers to prevent missed opportunities for testing.},
}

Humans
Female
*Breast Neoplasms/genetics/epidemiology/diagnosis/pathology
*Referral and Consultation/statistics & numerical data
*Genetic Counseling/statistics & numerical data
*Genetic Testing/statistics & numerical data
Adult
Canada/epidemiology
Retrospective Studies
Young Adult
Genetic Predisposition to Disease

@article {pmid39974553,
year = {2025},
author = {Maeda, Y and Ikeda, T and Sato, A and Matsumoto, A and Jinno, H},
title = {Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.},
journal = {Surgical case reports},
volume = {11},
number = {1},
pages = {},
pmid = {39974553},
issn = {2198-7793},
abstract = {INTRODUCTION: The phosphatase and tensin homolog hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by variants of the phosphatase and tensin homolog (PTEN) gene, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, and autism spectrum disorders associated with macrocephaly. PHTS is characterized by hamartomas in multiple organs and is associated with an increased risk of developing malignant tumors including, breast, thyroid, endometrial, colorectal, and kidney tumors. Breast cancer is the most common malignancy associated with PHTS.

CASE PRESENTATION: We describe the case of a 44-year-old female patient with invasive ductal carcinoma of the right breast. Cobblestone papillomatosis was present in the gingiva. She had a medical history of bilateral adenomatous goiters for 10 years. Her mother had been diagnosed with breast cancer, thyroid and tongue tumors, gastric polyps, hepatic hemangioma, and collagen disease. Additionally, the patient's maternal grandmother had a history of colon cancer. Based on the patient's family history and physical findings, CS was suspected, and direct DNA sequencing analysis revealed a haplotype c.634del mutation in exon 7 of the PTEN gene. Although there is no clear evidence supporting risk-reducing surgery for PHTS, a right nipple-sparing mastectomy, sentinel lymph node biopsy, and tissue expander reconstruction were performed.

CONCLUSIONS: We report a case of breast cancer with a newly diagnosed c.634del mutation in the PTEN gene. We also reviewed the current literature on PTEN genetic variants and breast cancer subtypes.},
}

@article {pmid39962573,
year = {2025},
author = {Deng, J and Wei, L and Chen, Y and Li, X and Zhang, H and Wei, X and Feng, X and Qiu, X and Liang, B and Zhang, J},
title = {Identification of benzo(a)pyrene-related toxicological targets and their role in chronic obstructive pulmonary disease pathogenesis: a comprehensive bioinformatics and machine learning approach.},
journal = {BMC pharmacology & toxicology},
volume = {26},
number = {1},
pages = {33},
pmid = {39962573},
issn = {2050-6511},
mesh = {*Pulmonary Disease, Chronic Obstructive/genetics/chemically induced ; Humans ; *Benzo(a)pyrene/toxicity ; *Machine Learning ; Computational Biology ; Molecular Docking Simulation ; Protein Interaction Maps ; Nomograms ; Oxidative Stress/drug effects ; },
abstract = {BACKGROUND: Chronic obstructive pulmonary disease (COPD) pathogenesis is influenced by environmental factors, including Benzo(a)pyrene (BaP) exposure. This study aims to identify BaP-related toxicological targets and elucidate their roles in COPD development.

METHODS: A comprehensive bioinformatics approach was employed, including the retrieval of BaP-related targets from the Comparative Toxicogenomics Database (CTD) and Super-PRED database, identification of differentially expressed genes (DEGs) from the GSE76925 dataset, and protein-protein interaction (PPI) network analysis. Functional enrichment and immune infiltration analyses were conducted using GO, KEGG, and ssGSEA algorithms. Feature genes related to BaP exposure were identified using SVM-RFE, Lasso, and RF machine learning methods. A nomogram was constructed and validated for COPD risk prediction. Molecular docking was performed to evaluate the binding affinity of BaP with proteins encoded by the feature genes.

RESULTS: We identified 72 differentially expressed BaP-related toxicological targets in COPD. Functional enrichment analysis highlighted pathways related to oxidative stress and inflammation. Immune infiltration analysis revealed significant increases in B cells, DC, iDC, macrophages, T cells, T helper cells, Tcm, and TFH in COPD patients compared to controls. Correlation analysis showed strong links between oxidative stress, inflammation pathway scores, and the infiltration of immune cells, including aDC, macrophages, T cells, Th1 cells, and Th2 cells. Seven feature genes (ACE, APOE, CDK1, CTNNB1, GATA6, IRF1, SLC1A3) were identified across machine learning methods. A nomogram based on these genes showed high diagnostic accuracy and clinical utility. Molecular docking revealed the highest binding affinity of BaP with CDK1, suggestive of its pivotal role in BaP-induced COPD pathogenesis.

CONCLUSIONS: The study elucidates the molecular mechanisms of BaP-induced COPD, specifically highlighting the role of oxidative stress and inflammation pathways in promoting immune cell infiltration. The identified feature genes may serve as potential biomarkers and therapeutic targets. Additionally, the constructed nomogram demonstrates high accuracy in predicting COPD risk, providing a valuable tool for clinical application in BaP-exposed individuals.},
}

*Pulmonary Disease, Chronic Obstructive/genetics/chemically induced
Humans
*Benzo(a)pyrene/toxicity
*Machine Learning
Computational Biology
Molecular Docking Simulation
Protein Interaction Maps
Nomograms
Oxidative Stress/drug effects

@article {pmid39962362,
year = {2025},
author = {Simoes, E and Uchida, R and Nucci, MP and Duran, FLS and Lima, JDCC and Gama, LR and Costa, NA and Otaduy, MCG and Bin, FC and Otoch, JP and Alcantara, P and Ramos, A and Laviano, A and Diaz, MB and Esiri, MM and DeLuca, GC and Herzig, S and Filho, GB and Seelaender, M},
title = {Cachexia Alters Central Nervous System Morphology and Functionality in Cancer Patients.},
journal = {Journal of cachexia, sarcopenia and muscle},
volume = {16},
number = {1},
pages = {e13742},
pmid = {39962362},
issn = {2190-6009},
mesh = {Humans ; *Cachexia/etiology/pathology/physiopathology ; Male ; Female ; Middle Aged ; *Neoplasms/complications/pathology/physiopathology ; Aged ; Magnetic Resonance Imaging ; *Central Nervous System/pathology/physiopathology ; Aged, 80 and over ; },
abstract = {BACKGROUND: Cachexia is a clinically challenging multifactorial and multi-organ syndrome, associated with poor outcome in cancer patients, and characterised by inflammation, wasting and loss of appetite. The syndrome leads to central nervous system (CNS) function dysregulation and to neuroinflammation; nevertheless, the mechanisms involved in human cachexia remain unclear.

METHODS: We used in vivo structural and functional magnetic resonance imaging (Cohort 1), as well as postmortem neuropathological analyses (Cohort 2) in cachectic cancer (CC) patients compared to weight stable cancer (WSC) patients. Cohort 1 included treatment-naïve adults diagnosed with colorectal cancer, further divided into WSC (n = 12; 6/6 [male/female], 61.3 ± 3.89 years) and CC (n = 10; 6/4, 63.0 ± 2.74 years). Cohort 2 was composed by human postmortem cases where gastrointestinal carcinoma was the underlying cause of death (WSC n = 6; 3/3, 82.7 ± 3.33 years and CC n = 10; 5/5, 84.2 ± 2.28 years).

RESULTS: Here we demonstrate that the CNS of CC patients presents regional structural differences within the grey matter (GM). Cachectic patients presented an augmented area within the region of the orbitofrontal cortex, olfactory tract and the gyrus rectus (coordinates X, Y, Z = 6, 20,-24; 311 voxels; pFWE = 0.023); increased caudate and putamen volume (-10, 20, -8; 110 voxel; pFWE = 0.005); and reduced GM in superior temporal gyrus and rolandic operculum (56,0,2; 156 voxels; pFWE = 0.010). Disrupted functional connectivity was found in several regions such as the salience network, subcortical and temporal cortical areas of cachectic patients (20 decreased and 5 increased regions connectivity pattern, pFDR < 0.05). Postmortem neuropathological analyses identified abnormal neuronal morphology and density, increased microglia/macrophage burden, astrocyte profile disruption and mTOR pathway related neuroinflammation (p < 0.05).

CONCLUSIONS: Our results indicate that cachexia compromises CNS morphology mostly causing changes in the GM of cachectic patients, leading to alterations in regional volume patterns, functional connectivity, neuronal morphology, neuroglia profile and inducing neuroinflammation, all of which may contribute to the loss of homeostasis control and to deficient information processing, as well as to the metabolic and behavioural derangements commonly observed in human cachexia. This first human mapping of CNS cachexia responses will now pave the way to mechanistically interrogate these pathways in terms of their therapeutic potential.},
}

Humans
*Cachexia/etiology/pathology/physiopathology
Male
Female
Middle Aged
*Neoplasms/complications/pathology/physiopathology
Aged
Magnetic Resonance Imaging
*Central Nervous System/pathology/physiopathology
Aged, 80 and over

@article {pmid39948972,
year = {2024},
author = {Takeda, S and Terakawa, H and Kawata, C and Kurokawa, Y and Machi, R and Tanaka, H and Nishimura, Y and Mohri, R and Hirata, M and Kitahara, T and Moriyama, H and Kinoshita, J and Kawashima, H and Inaki, N},
title = {[A Case in Which Multiple Biopsies from Breast Cancer Skin Metastases Were Performed and Trastuzumab Deruxtecan Was Used after Low HER2 Expression Was Confirmed].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {51},
number = {13},
pages = {1702-1703},
pmid = {39948972},
issn = {0385-0684},
mesh = {Humans ; Middle Aged ; Female ; *Receptor, ErbB-2/analysis/metabolism ; *Trastuzumab/therapeutic use ; *Skin Neoplasms/secondary/drug therapy ; *Breast Neoplasms/pathology/drug therapy ; Biopsy ; *Camptothecin/analogs & derivatives/therapeutic use ; *Immunoconjugates/therapeutic use ; },
abstract = {In March 2023, Trastuzumab deruxtecan(T-DXd)was added for the treatment of inoperable or recurrent breast cancer with low HER2 expression who has a history of chemotherapy. The patient was a 61-year-old woman who had undergone surgery for bilateral breast cancer, and was diagnosed with Stage ⅡA triple negative(HER2-IHC score 0)on the right and non-invasive ductal carcinoma of the breast on the left. Biopsy from metastases was triple-negative(HER2-IHC score 0, PD-L1 negative). Exacerbation of skin metastases was observed despite repeated regimen changes 3rd skin biopsy was diagnosed with low expression of HER2 for the first time, and T-DXd was started. The therapeutic effect of T-DXd was temporarily observed, such as a decrease in tumor markers. It is useful to repeatedly collect tissues from primary and metastatic lesions and re-evaluate biomarkers in order to develop an appropriate treatment plan.},
}

Humans
Middle Aged
Female
*Receptor, ErbB-2/analysis/metabolism
*Trastuzumab/therapeutic use
*Skin Neoplasms/secondary/drug therapy
*Breast Neoplasms/pathology/drug therapy
Biopsy
*Camptothecin/analogs & derivatives/therapeutic use
*Immunoconjugates/therapeutic use

@article {pmid39948901,
year = {2024},
author = {Nakakuma, T and Yamasaki, K and Ueno, S and Tabei, T},
title = {[A Case of Resection for a Late-Stage Solitary Hepatic Metastasis from Very Early Breast Cancer].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {51},
number = {13},
pages = {1492-1494},
pmid = {39948901},
issn = {0385-0684},
mesh = {Humans ; Female ; Middle Aged ; *Liver Neoplasms/secondary/surgery/drug therapy ; *Breast Neoplasms/pathology/surgery ; Hepatectomy ; Neoplasm Staging ; *Carcinoma, Ductal, Breast/surgery/secondary ; },
abstract = {A 57-year-old woman underwent left breast conserving surgery(Bp+Ax)for breast cancer at 46 years of age. Histopathological findings were invasive ductal carcinoma(tubule forming type), pN0(0/17), Ly0, V0, NG1, HG1, pT1aN0M0, Stage Ⅰ, ER 100%, HER2 score 0. Postoperatively, only radiotherapy to the preserved breast was performed and no adjuvant drug therapy was administered. This time, a 45 mm liver tumor in segment 4/3 was found by abdominal ultrasound for health checkup. Enhanced ultrasonography showed poor contrast, CT showed a low density tumor with calcification, MRI showed no diffusion reduction, and PET showed no FDG uptake. Although the findings were not typical for suspecting malignancy, but cholangiocellular carcinoma or metastatic liver cancer could not be ruled out. Laparoscopic liver resection was performed. Histopathological findings revealed liver metastasis of breast cancer. We report a rare case, a late-stage solitary hepatic metastasis from very early breast cancer. Although the concept of breast cancer as a systemic disease is well-established, in this case there is a possibility that recurrence would not have occurred if postoperative adjuvant drug therapy had been performed. The importance of postoperative adjuvant drug therapy for breast cancer was suggested. At present, she remains disease-free after hepatectomy.},
}

Humans
Female
Middle Aged
*Liver Neoplasms/secondary/surgery/drug therapy
*Breast Neoplasms/pathology/surgery
Hepatectomy
Neoplasm Staging
*Carcinoma, Ductal, Breast/surgery/secondary

@article {pmid39948851,
year = {2024},
author = {Fujimori, T and Kasagawa, T and Ishii, N and Kusashio, K and Yonemori, Y and Ozaki, D},
title = {[A Case of Bladder Metastasis from Invasive Ductal Carcinoma of the Breast-A Case Report].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {51},
number = {13},
pages = {1345-1347},
pmid = {39948851},
issn = {0385-0684},
mesh = {Humans ; Female ; *Breast Neoplasms/pathology/surgery/therapy/drug therapy ; Aged ; *Urinary Bladder Neoplasms/secondary/drug therapy ; *Carcinoma, Ductal, Breast/secondary/therapy/surgery/drug therapy/pathology ; Neoplasm Invasiveness ; },
abstract = {We report a patient with left breast cancer who underwent total mastectomy and axillary dissection as primary surgery. The patient, a 78-year-old woman, noticed a tumor about 4 cm in the left breast. She was diagnosed with left breast cancer (cT2N2M0, cStage ⅢA). The pathology revealed invasive lobular carcinoma, 46×31 mm, ly(+), v(0), histological grade: 2, n2, hormone receptor positive, HER2 negative, and pStage ⅢA. We recommended adjuvant chemotherapy, but she did not desire. She started oral administration of an aromatase inhibitor and radiation therapy. When DFI was 3 years, an examination was carried out because the increase in CEA value, CT scan revealed a mass extending from the bladder. We suspected bladder cancer. She underwent a bladder biopsy. The result was bladder metastasis of breast cancer. Later, we introduced chemotherapy. Routine screening of the lower urinary tract is not necessary for all patients, but women with a history of breast cancer presenting with urinary symptoms should undergo a thorough examination of the urinary tract.},
}

Humans
Female
*Breast Neoplasms/pathology/surgery/therapy/drug therapy
Aged
*Urinary Bladder Neoplasms/secondary/drug therapy
*Carcinoma, Ductal, Breast/secondary/therapy/surgery/drug therapy/pathology
Neoplasm Invasiveness

@article {pmid39945142,
year = {2025},
author = {Cremer, A and Rosewick, N and Kelsey, M and Trépo, E and Libert, F and De Vos, M and Baert, F and Moreels, T and Louis, E and Rahier, JF and Demetter, P and Sedivy, JM and Vermeire, S and Franchimont, D},
title = {A transcriptomic score to classify the inflammation-dysplasia-cancer sequence lesions in inflammatory bowel disease.},
journal = {Journal of Crohn's & colitis},
volume = {19},
number = {3},
pages = {},
pmid = {39945142},
issn = {1876-4479},
support = {//Research Foundation against Cancer-Belgium/ ; //Erasme Foundation/ ; R01 AG016694/AG/NIA NIH HHS/United States ; //Televie/ ; P01 AG051449/NH/NIH HHS/United States ; },
mesh = {Humans ; Female ; Male ; *Inflammatory Bowel Diseases/genetics/pathology/complications ; *Transcriptome ; Middle Aged ; Adult ; *Colorectal Neoplasms/genetics/pathology/etiology ; Gene Expression Profiling ; Inflammation/genetics/pathology ; *Colitis-Associated Neoplasms/genetics/pathology ; Intestinal Mucosa/pathology ; RNA, Long Noncoding/genetics ; },
abstract = {BACKGROUND AND AIMS: Inflammatory bowel disease (IBD) is associated with a higher risk of developing colorectal cancer, according to the inflammation-dysplasia-cancer (IDC) sequence from inflammation to colitis-associated colorectal cancer (CAC). The objective of this study was to identify and generate a transcriptomic signature and score, related to the IDC sequence, that could ultimately classify dysplasia and cancer in IBD.

METHODS: Demographics, clinical parameters, histological characteristics, and RNA-sequencing data were evaluated on 134 formalin-fixed paraffin-embedded lesions from 2 independent cohorts of IBD patients with low- or high-grade dysplasia (LGD, HGD) and/or CAC. An ordinal logistic regression screened for significant IDC sequence-associated genes that were computed in a transcriptomic signature score.

RESULTS: Principal component analysis and unsupervised clustering on 1% of the most variable genes showed a good clustering between the 4 lesion groups (Normal Mucosa, Inflamed Mucosa, LGD/HGD, and CAC). A gene signature was identified on 27 genes that correlated with the lesion groups in the exploratory cohort. The most weighted gene in this transcriptomic signature was the long non-coding regulatory RNA KCNQ1OT1, a gatekeeper against genomic instability and transposon activation. Based on the expression of these 27 genes, we built and validated a transcriptomic signature score to classify dysplasia and CAC. The overall accuracy of the transcriptomic signature score was 85.71% in the exploratory cohort and 90.91% in the validation cohort.

CONCLUSION: We identified a tissue-based transcriptomic score to classify IDC lesions in IBD patients and uncovered some of the pivotal genes in carcinogenesis related to inflammation in IBD.},
}

Humans
Female
Male
*Inflammatory Bowel Diseases/genetics/pathology/complications
*Transcriptome
Middle Aged
Adult
*Colorectal Neoplasms/genetics/pathology/etiology
Gene Expression Profiling
Inflammation/genetics/pathology
*Colitis-Associated Neoplasms/genetics/pathology
Intestinal Mucosa/pathology
RNA, Long Noncoding/genetics

@article {pmid39937427,
year = {2025},
author = {Kato, M and Sato, H and Naito, Y and Yamamoto, A and Kawanishi, H and Nakano, Y and Nishikimi, T and Kobayashi, M and Kondo, A and Hirabayashi, H and Katsuno, S and Sakamoto, F and Kimura, T and Yamamoto, S and Araki, H and Tochigi, K and Ito, F and Hatsuse, H and Sassa, N and Hirakawa, A and Akamatsu, S and Tsuzuki, T},
title = {Prospective observational study on the relationships between genetic alterations and survival in Japanese patients with metastatic castration-sensitive prostate cancer: the impact of IDC-P.},
journal = {International journal of clinical oncology},
volume = {30},
number = {4},
pages = {789-796},
pmid = {39937427},
issn = {1437-7772},
mesh = {Humans ; Male ; Aged ; Prospective Studies ; Japan/epidemiology ; Middle Aged ; Mutation ; Aged, 80 and over ; *Prostatic Neoplasms, Castration-Resistant/genetics/pathology/mortality ; Prognosis ; *Prostatic Neoplasms/genetics/mortality/pathology ; Tumor Suppressor Protein p53/genetics ; East Asian People ; BRCA2 Protein ; Hepatocyte Nuclear Factor 3-alpha ; },
abstract = {BACKGROUND: Intraductal Carcinoma of the Prostate (IDC-P) is a significant prognostic indicator for prostate cancer, which demonstrates significant associations with homologous recombination repair gene mutations (HRRm) and alterations in tumor suppressor genes. However, no study in Japan has investigated the association between IDC-P and genetic mutations in men with metastatic castration-sensitive prostate cancer (mCSPC).

METHODS: This prospective observational study enrolled 102 de novo mCSPC (LATITUDE high-risk) patients diagnosed between 2018 and 2021, with subsequent monitoring of survival outcomes. A single genitourinary pathologist evaluated all needle biopsy slides. Genetic analyses were performed using the Myriad myChoice HRD plus™. These genetic analyses covered 108 genetic loci, including 15 HRRm genes, with a success rate of 91%.

RESULTS: Genetic alterations were observed in 79 patients (77.5%), with 20 exhibiting HRRm (19.6%). Common genetic alterations included FOXA1 (29.4%) and TP53 (17.6%) mutations; BRCA (9.8%) mutations were the most frequent HRRm (BRCA1:2 cases, BRCA2:8 cases, including 6 biallelic). IDC-P-positive patients demonstrated a significantly higher frequency of genetic aberrations (82.6% vs. 50%, p = 0.0082). Patients with biallelic BRCA2, TP53, and PTEN mutations exhibited significantly poorer cancer-specific survival. Multivariate analysis identified lactate dehydrogenase (LDH) (HR 1.005, p = 0.035), TP53 mutations (HR 5.196, p < 0.001), biallelic BRCA2 mutations (HR 10.686, p = 0.005), and IDC-P as independent predictors of poor cancer-specific survival. No cancer-related deaths occurred in IDC-P-negative cases.

CONCLUSION: Our study emphasizes the significant association between IDC-P and an elevated incidence of genetic alterations in Japanese mCSPC patients, emphasizing the need for early genetic testing to guide therapeutic decision-making.},
}

Humans
Male
Aged
Prospective Studies
Japan/epidemiology
Middle Aged
Mutation
Aged, 80 and over
*Prostatic Neoplasms, Castration-Resistant/genetics/pathology/mortality
Prognosis
*Prostatic Neoplasms/genetics/mortality/pathology
Tumor Suppressor Protein p53/genetics
East Asian People
BRCA2 Protein
Hepatocyte Nuclear Factor 3-alpha

@article {pmid39936988,
year = {2025},
author = {González-Martínez, S and Palacios, J and Carretero-Barrio, I and Lanza, VF and García-Cosío Piqueras, M and Caniego-Casas, T and Hardisson, D and Esteban-Rodríguez, I and Cortés, J and Pérez-Mies, B},
title = {Single-Cell RNA Sequencing on Formalin-Fixed and Paraffin-Embedded (FFPE) Tissue Identified Multi-Ciliary Cells in Breast Cancer.},
journal = {Cells},
volume = {14},
number = {3},
pages = {},
pmid = {39936988},
issn = {2073-4409},
support = {PI22/01892, PMP22/00054, PMP21/00107//Instituto de Salud Carlos III/ ; },
mesh = {Humans ; *Breast Neoplasms/genetics/pathology ; *Paraffin Embedding/methods ; Female ; *Single-Cell Analysis/methods ; *Formaldehyde/chemistry ; *Tissue Fixation/methods ; *Sequence Analysis, RNA/methods ; Immunohistochemistry ; },
abstract = {The purpose of this study was to evaluate the suitability of formalin-fixed and paraffin-embedded (FFPE) samples and fixed fresh (FF) samples for single-cell RNA sequencing (scRNAseq). To this end, we compared single-cell profiles from FFPE and matched FF tissue samples of one invasive carcinoma of no special type carcinoma (invasive ductal carcinoma-IDC) and one invasive lobular carcinoma (ILC) to assess consistency in cell type distribution and molecular profiles. The results were validated using immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and electron microscopy. Additionally, immune cell proportions identified by IHC were quantified using QuPath and compared to the scRNAseq results. FFPE- and FF-derived libraries demonstrated high-quality sequencing metrics, and cellular heterogeneity was similar. No exclusive cell populations were identified by either approach. The four samples analysis identified six types of epithelial cells, as well as tumoral microenvironment populations. The scRNAseq results from epithelial neoplastic cells were concordant with common IHC markers. The proportion of immune cells identified by IHC in FFPE sections were similar to those obtained by scRNAseq. We identified and validated a previously poorly recognized subpopulation of neoplastic multi-ciliated cells (MCCs) (FOXJ1, ROPN1L). Analysis of FOXJ1 in 214 ER-positive invasive carcinomas demonstrated protein expression in one third of tumors, suggesting frequent focal MCC differentiation. Our results support the suitability of scRNAseq analysis using FFPE tissue, and identified a subpopulation of neoplastic MCC in breast cancer.},
}

Humans
*Breast Neoplasms/genetics/pathology
*Paraffin Embedding/methods
Female
*Single-Cell Analysis/methods
*Formaldehyde/chemistry
*Tissue Fixation/methods
*Sequence Analysis, RNA/methods
Immunohistochemistry

@article {pmid39925473,
year = {2025},
author = {Maxey, J and Harvey, D},
title = {Neisseria weaveri: Atypical Infection in Breast Implant-Based Reconstruction.},
journal = {Plastic and reconstructive surgery. Global open},
volume = {13},
number = {2},
pages = {e6505},
pmid = {39925473},
issn = {2169-7574},
abstract = {Surgical site infection (SSI) following breast implant surgery can have devastating complications. Infection is most commonly from coagulase-negative Staphylococcus bacteria. Neisseria weaveri is a gram-negative bacterium that is associated with animal bites. We present the first known case of N. weaveri causing SSI following breast implant reconstruction. We report the case of a 61-year-old woman with invasive ductal carcinoma who underwent bilateral skin-sparing mastectomy with immediate implant-based reconstruction. She presented on postoperative day 24 with malodorous drainage from her Jackson-Pratt drain. The patient explained that she has a shih tzu at home that frequently licked her. Cultures from the drain grew N. weaveri. The patient's antibiotic regimen was transitioned, and she completed her course without complications. Practitioners should counsel their patients on adequate postsurgery hygiene and take into consideration rare causes of SSI and how this may affect patient care.},
}

@article {pmid39912231,
year = {2025},
author = {Palanjian, R and Welk, B and Myers, JB and Lenherr, SM and Elliott, SP and O'Dell, D and Stoffel, JT},
title = {Impact of Bladder Management Strategies on Autonomic Dysreflexia Severity in People With Spinal Cord Injuries.},
journal = {Neurourology and urodynamics},
volume = {44},
number = {4},
pages = {754-759},
pmid = {39912231},
issn = {1520-6777},
support = {//Patient Centered Outcomes Research Institute Award-CER14092138./ ; },
mesh = {Humans ; *Spinal Cord Injuries/complications/physiopathology ; *Autonomic Dysreflexia/etiology/physiopathology/diagnosis/therapy ; Female ; Middle Aged ; Male ; *Urinary Bladder, Neurogenic/etiology/therapy/physiopathology/diagnosis ; Adult ; Prospective Studies ; Severity of Illness Index ; *Urinary Bladder/physiopathology/innervation ; Quality of Life ; Registries ; Aged ; Neurogenic Bowel/etiology/physiopathology ; Intermittent Urethral Catheterization ; Urinary Catheterization ; },
abstract = {PURPOSE: We investigated whether severity of autonomic dysreflexia (AD) was associated with more patient-reported bladder and bowel symptoms and compared AD severity by bladder management strategy in people with spinal cord injury (SCI).

METHODS: The Neurogenic Bladder Research Group SCI Registry is a prospective study which evaluated quality of life after SCI. Bladder and bowel symptoms were assessed through Neurogenic Bladder Symptom Score and Neurogenic Bowel Dysfunction score, respectively. AD severity was assessed with the Autonomic Dysreflexia Following Spinal Cord Injury (ADFSCI) instrument. Bladder management was classified as volitional voiding, clean intermittent catheterization (CIC), indwelling catheter (IDC), and surgery (augmentation and diversion).

RESULTS: AD scores were identified for 1473 people. The mean age was 45. Bladder management was CIC in 754 (51%), IDC in 271 (18%), surgery in 195 (13%) and voiding in 259 (18%). On univariate analysis, higher ADFSCI scores occurred with complete injuries (3.1 vs 3.4, p = 0.03), cervical/thoracic injuries (3.8 vs 1.5, p < 0.0001), and chronic pain (3.9 vs 2.9, p = 0.0004). IDC (5.2) and surgery (4.5) had higher ADFSCI scores than CIC (3.0) and volitional voiding (2.8) (p < 0.0001). Sub-analysis showed bladder augmentation had significantly higher ADSCI scores than diversion (4.7 vs 3.7, p = 0.03). On multivariate analysis, level of injury, bladder management, and bowel and bladder symptoms remained associated with worse AD.

CONCLUSION: Level of injury, age, worse bowel and bladder symptoms and bladder management type were associated with higher AD scores. Bladder management with surgery, particularly bladder augment, and IDC had associated greater AD symptoms compared to CIC or voiding.

TRIAL REGISTRATION: clinicaltrials.gov NTC06216081 and HSRP20153564, U.S. National Library of Medicine, wwwcf.nlm.nih.gov.},
}

Humans
*Spinal Cord Injuries/complications/physiopathology
*Autonomic Dysreflexia/etiology/physiopathology/diagnosis/therapy
Female
Middle Aged
Male
*Urinary Bladder, Neurogenic/etiology/therapy/physiopathology/diagnosis
Adult
Prospective Studies
Severity of Illness Index
*Urinary Bladder/physiopathology/innervation
Quality of Life
Registries
Aged
Neurogenic Bowel/etiology/physiopathology
Intermittent Urethral Catheterization
Urinary Catheterization

@article {pmid39906646,
year = {2025},
author = {Shi, J and Qi, X and Ran, Y and Zhou, Q and Ding, Y and Li, L and Zeng, Y and Qiu, D and Cai, Z and Cai, X and Pan, Y},
title = {Saliva-acquired pellicle inspired multifunctional gargle with wet adhesion, photodynamic antimicrobial, and In situ remineralization properties for dental caries prevention.},
journal = {Bioactive materials},
volume = {47},
number = {},
pages = {212-228},
pmid = {39906646},
issn = {2452-199X},
abstract = {Dental caries is primarily caused by cariogenic bacteria metabolizing carbohydrates to produce acidic substances that erode the dental hard tissues. Traditional remineralization treatments often have limited efficacy due to their lack of antibacterial activity. According to the Interrupting Dental Caries (IDC) theory, ideal caries-preventive materials should possess both antibacterial and remineralizing properties. Furthermore, effective adhesion to dental surfaces is crucial. Inspired by the wet adhesion properties of the salivary acquired pellicle, we developed a multifunctional gargle named Ce6@PDN-SAP (CP-SAP). This formulation employed peptide dendrimer nanogels (PDN) as a carrier for the photosensitizer Ce6, further functionalized with saliva-acquired peptide (SAP) to confer wet adhesion properties. CP-SAP rapidly adhered to the dental surface and remained effective for extended periods. Upon laser irradiation, Ce6 generated reactive oxygen species (ROS), disrupting bacterial outer membrane integrity, causing protein leakage, and reducing ATP levels, thereby achieving potent antibacterial effects. Following this, PDN and SAP acted as nucleation templates to promote in situ remineralization of demineralized dental hard tissues. In vivo studies using rat models demonstrated that CP-SAP provided significantly superior caries-preventive effects compared to chlorhexidine gargle. In conclusion, CP-SAP, as an innovative approach grounded in the IDC theory, holds great promise for the prevention and treatment of dental caries.},
}

@article {pmid39879501,
year = {2025},
author = {Uppal, R and Saeed, U and Khattak, ME and Khan, AA and Uppal, MR and Piracha, ZZ and Khan, MN and Shaikh, D and Tariq, U and Mahmood, AR and Ali, SS and Muhammad, B and Tariq, MN and Gilani, SS and Ozsahin, DU and Uzun, B and Ozsahin, I},
title = {Epidemiological analysis of Leishmaniasis prevalence in Pakistan during 2016-2023.},
journal = {Brazilian journal of biology = Revista brasleira de biologia},
volume = {84},
number = {},
pages = {e284742},
doi = {10.1590/1519-6984.284742},
pmid = {39879501},
issn = {1678-4375},
mesh = {Pakistan/epidemiology ; Humans ; Prevalence ; Male ; Child ; Female ; Adult ; Retrospective Studies ; Adolescent ; Child, Preschool ; Young Adult ; Middle Aged ; *Leishmaniasis/epidemiology/transmission ; Infant ; Aged ; },
abstract = {Leishmaniasis, caused by the Leishmania parasite, remains a persistent public health challenge in Pakistan. Despite control efforts, the disease prevalence continues to rise, particularly among pediatric populations. Understanding prevalence patterns and transmission dynamics is critical for effective control strategies. This study aims to analyze leishmaniasis prevalence data from January 2016 to July 2023 in Pakistan. Specific objectives include assessing temporal trends, demographic patterns, and geographical hotspots of transmission, while emphasizing the need for enhanced surveillance and research for targeted interventions. Retrospective analysis was conducted on leishmaniasis prevalence data collected from multiple healthcare facilities across Pakistan. Data included results from diagnostic tests on suspected cases, encompassing both pediatric and adult patients. Descriptive statistical analysis was employed to evaluate prevalence rates, demographic characteristics, and geographical distribution of positive cases. Analysis revealed an increasing trend in leishmaniasis prevalence over the study period. Initially, from 2016 to 2020, a positivity rate of 27% was observed exclusively among pediatric patients in Islamabad, with no adult cases. Subsequently, from 2017 to 2022, the positivity rate increased to 42%, affecting both pediatric and adult populations in Islamabad, Rawalpindi, and Swat. Notably, between July 2022 and July 2023, the positivity rate surged to 56%, primarily impacting adult males in the identified hotspots. The study provides evidence of rising leishmaniasis prevalence in Pakistan, particularly among pediatric patients. Identified hotspots suggest localized transmission, warranting targeted interventions. Enhanced surveillance and research efforts are crucial for understanding disease dynamics and implementing effective control measures. Priority should be given to vulnerable populations and high-burden regions to mitigate leishmaniasis impact in Pakistan.},
}

Pakistan/epidemiology
Humans
Prevalence
Male
Child
Female
Adult
Retrospective Studies
Adolescent
Child, Preschool
Young Adult
Middle Aged
*Leishmaniasis/epidemiology/transmission
Infant
Aged

@article {pmid39879500,
year = {2025},
author = {Piracha, ZZ and Saeed, U and Uppal, R and Uppal, MR and Khan, AA and Abdullah, M and Mari, K and Basra, A and Gilani, SS and Tariq, MN and Ozsahin, DU and Uzun, B and Ozsahin, I},
title = {Prevalence and clinical profile of hepatitis C virus infections in multitransfused thalassemic patients in the capital twin cities of Pakistan.},
journal = {Brazilian journal of biology = Revista brasleira de biologia},
volume = {84},
number = {},
pages = {e284453},
doi = {10.1590/1519-6984.284453},
pmid = {39879500},
issn = {1678-4375},
mesh = {Humans ; Pakistan/epidemiology ; Male ; Female ; Prevalence ; Adult ; *Hepatitis C/epidemiology ; Young Adult ; Adolescent ; *beta-Thalassemia/therapy/complications/epidemiology ; Middle Aged ; Child ; Alanine Transaminase/blood ; Transfusion Reaction ; },
abstract = {Hepatitis C virus (HCV) presents a significant global health concern, affecting 3.3% of the world's population. The primary mode of HCV transmission is through blood and blood products. Patients with beta thalassemia, who rely on lifelong blood transfusions, are particularly vulnerable to HCV infections. This study aimed to assess the prevalence of hepatitis C virus infections among multitransfused thalassemic patients in the twin cities of Pakistan's capital. The clinical research, involving the enrollment of 262 multitransfused beta thalassemic patients residing in the capital twin cities of Pakistan. The investigation encompassed the evaluation of hepatitis C virus presence, alanine aminotransferase (ALT) levels, serum creatinine, hepatomegaly, splenomegaly, and the occurrence of splenectomy. The overall prevalence of Hepatitis C virus infections was notably high at 55.73%. This was particularly pronounced among patients aged 20 years and older, with a 100% infection rate. In HCV-positive thalassemic patients, the average ALT level was observed to be 98 U/L, while average creatinine values stood at 0.39 mg/dL. Additionally, hepatomegaly was prevalent in 82.20% of HCV-positive thalassemic patients, featuring an average liver size increase of 4.33 cm. Splenomegaly was evident in 67.12% of HCV-positive thalassemic patients, with an average spleen size augmentation of 4.46 cm. Splenectomy was identified in 15.75% of cases. The incidence of HCV infections in the thalassemic population of Pakistan is alarmingly high. Furthermore, the risk of contracting HCV infections escalates with the advancing age of thalassemic patients. Elevated ALT levels and hepatomegaly were pervasive among the majority of HCV-positive thalassemic patients. Consequently, there is a compelling need for rigorous screening of blood products prior to transfusion to mitigate the future burden of HCV in Pakistan.},
}

Humans
Pakistan/epidemiology
Male
Female
Prevalence
Adult
*Hepatitis C/epidemiology
Young Adult
Adolescent
*beta-Thalassemia/therapy/complications/epidemiology
Middle Aged
Child
Alanine Transaminase/blood
Transfusion Reaction

@article {pmid39864363,
year = {2025},
author = {Metzger Filho, O and Cardoso, F and Poncet, C and Desmedt, C and Linn, S and Wesseling, J and Hilbers, F and Delaloge, S and Pierga, JY and Brain, E and Vrijaldenhoven, S and Neijenhuis, PA and Rutgers, EJT and Piccart, M and van 't Veer, LJ and Viale, G},
title = {Survival outcomes for patients with invasive lobular cancer by MammaPrint: Results from the MINDACT phase III trial.},
journal = {European journal of cancer (Oxford, England : 1990)},
volume = {217},
number = {},
pages = {115222},
doi = {10.1016/j.ejca.2025.115222},
pmid = {39864363},
issn = {1879-0852},
mesh = {Humans ; Female ; *Breast Neoplasms/genetics/mortality/pathology/therapy ; *Carcinoma, Lobular/genetics/mortality/pathology/therapy ; Middle Aged ; Disease-Free Survival ; Aged ; Adult ; Gene Expression Profiling/methods ; Prognosis ; *Biomarkers, Tumor/genetics ; Neoplasm Invasiveness ; Transcriptome ; },
abstract = {BACKGROUND: Evaluation of the prognostic performance and clinical utility of the MammaPrint 70-gene signature in early-stage invasive lobular carcinoma (ILC) for whom such analyses in a randomized trial is awaited.

PATIENTS AND METHODS: Exploratory subgroup analysis of MINDACT trial patients with centrally assessed histology (n = 5929) with invasive breast cancer of no-special-type (NST), or pure ILC. In the trial patients were categorized based on the 70-gene signature for genomic risk and modified Adjuvant!Online for clinical risk. Survival outcomes at 8.7 years median follow-up by 70-gene signature were compared between NST and ILC for Distant Metastasis-Free Survival (DMFS), Disease-Free Survival (DFS) and Overall Survival (OS).

RESULTS: 5313 patients were ILC (n = 487) or NST (n = 4826). ILC was further classified into classic ILC (n = 255) or ILC variants (n = 232). The 70-gene signature classified 16.2 % of ILC and 39.1 % of NST as genomic high-risk (gH). Survival outcomes for ILC vs. NST revealed similar estimates according to genomic risk overall and across subsets. The 70-gene signature classified 10.2 % of classic ILC and 22.8 % of ILC variants as gH. 5-yr DFS estimates for ILC variants 88.4 % (95 %CI: 83.1-92.1) was inferior to classic ILC 93.0 % (95 %CI: 88.7-95.7).

CONCLUSIONS: Sixteen percent of ILC were classified high genomic risk by the 70-gene signature, with unfavorable survival outcomes. Survival estimates were similar for patients with ILC and NST classified as either low- or high-genomic risk, suggesting that the 70-gene signature also has prognostic value in ILC and may be a clinically useful tool for adjuvant treatment decision-making in ILC.},
}

Humans
Female
*Breast Neoplasms/genetics/mortality/pathology/therapy
*Carcinoma, Lobular/genetics/mortality/pathology/therapy
Middle Aged
Disease-Free Survival
Aged
Adult
Gene Expression Profiling/methods
Prognosis
*Biomarkers, Tumor/genetics
Neoplasm Invasiveness
Transcriptome

@article {pmid39863086,
year = {2025},
author = {Taylor, H and Spruill, L and Jensen-Smith, H and Rujchanarong, D and Hulahan, T and Ivey, A and Siougiannis, A and Bethard, JR and Ball, LE and Sandusky, GE and Hollingsworth, MA and Barth, JL and Mehta, AS and Drake, RR and Marks, JR and Nakshatri, H and Ford, M and Angel, PM},
title = {Spatial localization of collagen hydroxylated proline site variation as an ancestral trait in the breast cancer microenvironment.},
journal = {Matrix biology : journal of the International Society for Matrix Biology},
volume = {136},
number = {},
pages = {71-86},
doi = {10.1016/j.matbio.2025.01.006},
pmid = {39863086},
issn = {1569-1802},
support = {P20 GM130447/GM/NIGMS NIH HHS/United States ; P30 CA036727/CA/NCI NIH HHS/United States ; },
mesh = {Humans ; *Tumor Microenvironment ; Female ; Hydroxylation ; *Breast Neoplasms/metabolism/pathology/genetics ; *Proline/metabolism ; *Collagen/metabolism/genetics/chemistry ; Proteomics/methods ; Protein Processing, Post-Translational ; Extracellular Matrix/metabolism ; },
abstract = {Collagen stroma interactions within the extracellular microenvironment of breast tissue play a significant role in breast cancer, including risk, progression, and outcomes. Hydroxylation of proline (HYP) is a common post-translational modification directly linked to breast cancer survival and progression. Changes in HYP status lead to alterations in epithelial cell signaling, extracellular matrix remodeling, and immune cell recruitment. In the present study, we test the hypothesis that the breast cancer microenvironment presents unique PTMs of collagen, which form bioactive domains at these sites that are associated with spatial histopathological characteristics and influence breast epithelial cell signaling. Mass spectrometry imaging proteomics targeting collagens were paired with comprehensive proteomic methods to identify novel breast cancer-related collagen domains based on spatial localization and regulation in 260 breast tissue samples. As ancestry plays a significant role in breast cancer outcomes, these methods were performed on ancestry diverse breast cancer tissues. Lumpectomies from the Cancer Genome Atlas (TCGA; n=10) reported increased levels of prolyl 4-hydroxylase subunit alpha-3 (P4HA3) accompanied by spatial regulation of fibrillar collagen protein sequences. A concise set of triple negative breast cancer lumpectomies (n=10) showed spatial regulation of specific domain sites from collagen alpha-1(I) chain. Tissue microarrays identified proteomic alterations around post-translationally modified collagen sites in healthy breast (n=81) and patient matched normal adjacent (NAT; n=76) and invasive ductal carcinoma (n=83). A collagen alpha-1(I) chain domain encompassing amino acids 506-514 with site-specific proline hydroxylation reported significant alteration between patient matched normal adjacent tissue and invasive breast cancer. Functional testing of domain 506-514 on breast cancer epithelial cells showed proliferation, chemotaxis and cell signaling response dependent on site localization of proline hydroxylation within domain 506-514 variants. These findings support site localized collagen HYP forms novel bioactive domains that are spatially distributed within the breast cancer microenvironment and may play a role in ancestral traits of breast cancer.},
}

Humans
*Tumor Microenvironment
Female
Hydroxylation
*Breast Neoplasms/metabolism/pathology/genetics
*Proline/metabolism
*Collagen/metabolism/genetics/chemistry
Proteomics/methods
Protein Processing, Post-Translational
Extracellular Matrix/metabolism

@article {pmid39843553,
year = {2025},
author = {Nishida, H and Kato, A and Kaimori, R and Kawamura, K and Daa, T},
title = {Relationship between androgen receptor and androgen receptor-related protein expression in breast cancers focusing on morphologically identified carcinoma with apocrine differentiation.},
journal = {Scientific reports},
volume = {15},
number = {1},
pages = {2892},
pmid = {39843553},
issn = {2045-2322},
mesh = {Humans ; *Receptors, Androgen/metabolism/genetics ; Female ; *Breast Neoplasms/pathology/metabolism ; Middle Aged ; Receptor, ErbB-2/metabolism ; Adult ; Aged ; Biomarkers, Tumor/metabolism ; Receptors, Estrogen/metabolism ; Cell Differentiation ; Receptors, Progesterone/metabolism ; *Apocrine Glands/pathology/metabolism ; *Carcinoma, Ductal, Breast/pathology/metabolism ; Immunohistochemistry ; Hepatocyte Nuclear Factor 3-alpha/metabolism ; },
abstract = {Breast cancer (BC) is classified based on the expression of histopathological markers, namely, estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth factor receptor 2 (HER2). Carcinomas with apocrine differentiation (CAD) are classified based on morphology. Androgen receptor (AR) is highly expressed in CAD; however, no study has comprehensively examined AR-related proteins in CAD. Therefore, we examined the expression of AR-related proteins and AR, compared protein expression patterns between morphologically identified CAD and other BC subtypes, and investigated CAD characteristics. We performed immunohistochemistry for AR and various AR-related proteins in 66 invasive ductal carcinoma (32 ER+/PgR+/HER2-, 8 ER+/PgR+/HER2+, 12 ER-/PgR-/HER2+, and 14 ER-/PgR-/HER2- [triple-negative breast cancer)), 21 invasive lobular carcinoma, and 27 CAD cases. In the CAD group, all cases were AR-positive; some AR-related proteins were highly expressed. Nuclear phosphorylated-mammalian target of rapamycin was highly expressed in CAD cases compared with that in other BC groups, with a 33.3% sensitivity and 97.7% specificity. AR-expressing CAD cases exhibited high expression of other AR-related proteins. Specifically, the combination of AR+, GCDFP15+, and ER - or AR+, FOXA1+, and ER - may be useful for the diagnosis and treatment of AR-positive BC and CAD. These results may assist in androgen-related molecular targeted therapy research.},
}

Humans
*Receptors, Androgen/metabolism/genetics
Female
*Breast Neoplasms/pathology/metabolism
Middle Aged
Receptor, ErbB-2/metabolism
Adult
Aged
Biomarkers, Tumor/metabolism
Receptors, Estrogen/metabolism
Cell Differentiation
Receptors, Progesterone/metabolism
*Apocrine Glands/pathology/metabolism
*Carcinoma, Ductal, Breast/pathology/metabolism
Immunohistochemistry
Hepatocyte Nuclear Factor 3-alpha/metabolism

@article {pmid39829405,
year = {2025},
author = {Mansour, A and Ben-David, BM and Sasson, A and Farraj, J and Mansour, A and Roth, Y and Icht, M},
title = {Association between oral feeding versus enteral feeding and cerumen impaction in older hospitalized adults: A retrospective cohort study.},
journal = {JPEN. Journal of parenteral and enteral nutrition},
volume = {49},
number = {3},
pages = {341-348},
doi = {10.1002/jpen.2724},
pmid = {39829405},
issn = {1941-2444},
mesh = {Humans ; Retrospective Studies ; Aged ; Male ; Female ; *Enteral Nutrition/adverse effects ; *Hospitalization ; Aged, 80 and over ; *Cerumen ; Length of Stay ; Deglutition Disorders ; Risk Factors ; *Diet ; },
abstract = {BACKGROUND: Chewing involves jaw movements that propel cerumen along the ear canal. This mechanism may be reduced in dysphagia, especially for older individuals who are enterally fed. Those patients may be at a higher risk for cerumen impaction and may require longer hospital stays. Examining the relationship between diet type, cerumen impaction, and hospital stay duration was the focus of the present study.

METHODS: We performed a retrospective cohort study (not registered) among 114 hospitalized older adults. Data were collected on diet type: (1) oral feeding (individuals fed a solid diet or a pureed diet) or (2) enteral feeding (individuals fed via a feeding tube). The results of an otoscopy that quantified cerumen were recorded, as well as hospital stay duration.

RESULTS: In a mediation analysis, a hospital stay of >1 month was associated with an increased risk of enteral feeding, which in turn, increased the risk of cerumen impaction. Analysis indicated that the link between longer hospitalization and a more severe level of cerumen impaction was fully mediated by diet type (enteral feeding).

CONCLUSIONS: Enteral feeding seems to be a risk factor for cerumen impaction, rather than merely hospitalization length, in our sample of geriatric patients. These results highlight the importance of continuous monitoring by ear, nose, and throat specialists, as well as regular auditory assessments for patients who are enterally fed for early detection and treatment of cerumen impaction. Particular attention should be paid to cases of prolonged hospitalization, which is associated with the severity of dysphagia.},
}

Humans
Retrospective Studies
Aged
Male
Female
*Enteral Nutrition/adverse effects
*Hospitalization
Aged, 80 and over
*Cerumen
Length of Stay
Deglutition Disorders
Risk Factors
*Diet

@article {pmid39822422,
year = {2024},
author = {Aleksiev, T and Popov, V and Dobrev, H},
title = {Radiation-Associated Herpes Zoster: A Clinical Case.},
journal = {Cureus},
volume = {16},
number = {12},
pages = {e75857},
pmid = {39822422},
issn = {2168-8184},
abstract = {Herpes zoster (HZ) is a viral infection caused by the reactivation of endogenous and latent varicella-zoster virus that remains dormant in the cranial nerve or dorsal root ganglia. HZ occurs in a portion of the general population, with a higher incidence observed in high-risk individuals. Patients with impaired immunity, including human immunodeficiency virus infection, organ transplantation, old age, and cancer-related treatments such as chemotherapy (CT) and radiotherapy (RT) were found more prone to HZ infection. We present a case of a 50-year-old patient who underwent a surgical excision of an invasive ductal carcinoma of the right breast. Following 15 fractions of RT, the patient presented with HZ appearing in the radiation field. The patient was treated successfully with Acyclovir, and RT was continued while on maintenance therapy with antiviral drugs. This case presents the importance of early diagnosis and the right choice of treatment in cancer patients and HZ due to the higher risk of complications and further development of the primary condition.},
}

@article {pmid39821030,
year = {2025},
author = {Bullock, E and Brunton, VG},
title = {E-Cadherin-Mediated Cell-Cell Adhesion and Invasive Lobular Breast Cancer.},
journal = {Advances in experimental medicine and biology},
volume = {1464},
number = {},
pages = {259-275},
pmid = {39821030},
issn = {0065-2598},
mesh = {Humans ; *Cadherins/metabolism/genetics ; *Breast Neoplasms/pathology/metabolism/genetics ; Female ; *Carcinoma, Lobular/pathology/metabolism/genetics ; *Cell Adhesion ; Epithelial-Mesenchymal Transition ; Neoplasm Invasiveness ; Adherens Junctions/metabolism/pathology ; Animals ; },
abstract = {E-cadherin is a transmembrane protein and central component of adherens junctions (AJs). The extracellular domain of E-cadherin forms homotypic interactions with E-cadherin on adjacent cells, facilitating the formation of cell-cell adhesions, known as AJs, between neighbouring cells. The intracellular domain of E-cadherin interacts with α-, β- and p120-catenins, linking the AJs to the actin cytoskeleton. Functional AJs maintain epithelial tissue identity and integrity. Transcriptional downregulation of E-cadherin is the first step in epithelial-to-mesenchymal transition (EMT), a process essential in development and tissue repair, which, in breast cancer, can contribute to tumour progression and metastasis. In addition, loss-of-function mutations in E-cadherin are a defining feature of invasive lobular breast cancer (also known as invasive lobular carcinoma (ILC)), the second most common histological subtype of breast cancer. ILC displays a discohesive, single-file invasive growth pattern due to the loss of functional AJs. Despite being so prevalent, until recently there has been limited ILC-focused research and historically ILC patients have often been excluded from clinical trials. Despite displaying a number of good prognostic indicators, such as low grade and high rates of estrogen receptor positivity, ILC patients tend to have similar or poorer outcomes relative to the most common subtype of breast cancer, invasive ductal carcinoma (IDC). In ILC, E-cadherin loss promotes hyperactivation of growth factor receptors, in particular insulin-like growth factor 1 receptor, anoikis resistance and synthetic lethality with ROS1 inhibition. These features introduce clinical vulnerabilities that could potentially be exploited to improve outcomes for ILC patients, for whom there are currently limited tailored treatments available.},
}

Humans
*Cadherins/metabolism/genetics
*Breast Neoplasms/pathology/metabolism/genetics
Female
*Carcinoma, Lobular/pathology/metabolism/genetics
*Cell Adhesion
Epithelial-Mesenchymal Transition
Neoplasm Invasiveness
Adherens Junctions/metabolism/pathology
Animals

@article {pmid39821022,
year = {2025},
author = {Nair, I and Behbod, F},
title = {Models for Studying Ductal Carcinoma In Situ Progression.},
journal = {Advances in experimental medicine and biology},
volume = {1464},
number = {},
pages = {95-108},
pmid = {39821022},
issn = {0065-2598},
mesh = {Humans ; *Carcinoma, Intraductal, Noninfiltrating/pathology/genetics/metabolism ; Disease Progression ; Female ; *Breast Neoplasms/pathology/genetics/metabolism ; Tumor Microenvironment ; *Models, Biological ; *Carcinoma, Ductal, Breast/pathology ; },
abstract = {An estimated 55,720 new cases of ductal carcinoma in situ (DCIS) will be diagnosed in 2023 in the USA alone because of the increased use of screening mammography. The treatment goal in DCIS is early detection and treatment with the hope of preventing progression into invasive disease. Previous studies show progression into invasive cancer as well as reduction in mortality from treatment is not as high as previously thought. So, are we overdiagnosing and over-treating DCIS? An understanding of the natural progression of DCIS is paramount to address this. The purpose of this chapter is to describe various models that have been developed to simulate the processes involved in DCIS to invasive ductal carcinoma (IDC) transition. While each model possesses a unique set of strengths and weaknesses, they have collectively contributed to the current understanding of the molecular and cellular mechanisms underlying this transition. Even though much has been learned, continued advancement of the current models to best match the composition of DCIS epithelial and stromal microenvironment including the extracellular matrix (ECM), stromal cell types, and immune microenvironment will be essential. These advances will undoubtedly pave the way toward a full understanding of mechanisms associated with progression and in predicting when a DCIS lesion remains indolent and when triggers tip in the balance toward progression to malignancy.},
}

Humans
*Carcinoma, Intraductal, Noninfiltrating/pathology/genetics/metabolism
Disease Progression
Female
*Breast Neoplasms/pathology/genetics/metabolism
Tumor Microenvironment
*Models, Biological
*Carcinoma, Ductal, Breast/pathology

@article {pmid39815122,
year = {2025},
author = {Sossa-Melo, C and Abello-Polo, V and Salazar, LA and Peña, AM and Luna-González, M and Cuervo-Lozada, D and Quintero-Vega, GE and Daza, J and Omaña-Orduz, OP and Mantilla, W and Perdomo, I and Galvez, K and Díaz-Correa, LM and Guerrero-Burbano, PA and Herrera, JM and Idrobo, H and Gaviria, LM and Correa-Correa, ME and Lobatón, J and Bermúdez, CD and Pedraza-Morales, JE and Serrano-Casas, JC and Jaramillo, F and Gómez, R and Rosales, C and Solano, MH and Varón, C and Rodríguez-Veiga, R and Martínez-Cuadrón, D and Montesinos, P},
title = {Characteristics, outcomes and treatment patterns in acute myeloid leukemia patients 60 years or older in Colombia: a RENEHOC-PETHEMA study.},
journal = {Annals of hematology},
volume = {104},
number = {1},
pages = {369-381},
pmid = {39815122},
issn = {1432-0584},
mesh = {Humans ; Male ; *Leukemia, Myeloid, Acute/genetics/therapy/mortality/epidemiology/drug therapy/diagnosis ; Female ; Colombia/epidemiology ; Aged ; Middle Aged ; Retrospective Studies ; Aged, 80 and over ; Nucleophosmin ; Treatment Outcome ; *Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Registries ; Survival Rate ; Cytarabine/administration & dosage ; Mutation ; },
abstract = {There is a limited information available on the clinical characteristics, treatment patterns and outcomes on older patients diagnosed with Acute Myeloid Leukemia (AML) in Latin-America. This multicenter retrospective study analyzed 269 patients over 60 years of age diagnosed with AML in Colombia, using data from RENEHOC-PETHEMA registry, from 2009 to 2023. The median age at diagnosis was 70 years (Range:60-98), 55% were men, 61% had an ECOG < 2, and 75.5% had de novo AML. FLT3-ITD or NPM1 mutations were performed in 23.4% and 15.6% patients, and detected in 14.3% and 16.7% of cases, respectively. Treatment included intensive chemotherapy (IC) (36.8%), Low-Intensity Regimen Based on Low-Dose Cytarabine (LDAC-based) (12.6%), hypomethylating agents (HMAs, with/without venetoclax) (35.3%), and supportive care (15.2%). The overall survival (OS) rate was 35.2% at 1 year and 5.6% at 5 years (13.7% for IC, 9.4% for LDAC-based, and 0% for other treatments); with median OS of 8.2 months (10.6 months after IC, 8.8 months after non-IC, 8.9 months after azacitidine/decitabine, 8.2 months after azacitidine-venetoclax, and 1.9 months with supportive care). Only 1.5% of patients underwent a transplant in the first line. The Leukemia-free survival (LFS) rate was 45.8% at 1-year and 13.7% at 5-years (22.4% for IC, 9.4% and 0% for other treatments); with median LFS of 9.5 months (17.3 months after IC, 7.4 months after LDAC-based, and 10.8 months after HMA). This study provides new insights into the management of patients in Colombia, highlighting the need for a highly individualized approach in treating AML in elderly patients.},
}

Humans
Male
*Leukemia, Myeloid, Acute/genetics/therapy/mortality/epidemiology/drug therapy/diagnosis
Female
Colombia/epidemiology
Aged
Middle Aged
Retrospective Studies
Aged, 80 and over
Nucleophosmin
Treatment Outcome
*Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Registries
Survival Rate
Cytarabine/administration & dosage
Mutation

@article {pmid39806949,
year = {2025},
author = {Gallas, AE and Morenikeji, GO and King, RE and Adegbaju, MS and Ayoola, A and Taiwo, G and Morenikeji, OB},
title = {An Overview of Invasive Ductal Carcinoma (IDC) in Women's Breast Cancer.},
journal = {Current molecular medicine},
volume = {},
number = {},
pages = {},
doi = {10.2174/0115665240349468241113065031},
pmid = {39806949},
issn = {1875-5666},
abstract = {Invasive ductal carcinoma (IDC) is the most common type of breast cancer, primarily affecting women in the United States and across the world. This review summarizes key concepts related to IDC causes, treatment approaches, and the identification of biological markers for specific prognoses. Furthermore, we reviewed many studies, including those involving patients with IDC and ductal carcinoma in situ (DCIS) that progressed to IDC. We reported various studies on the causes of IDC, including mutations on BRCA1 and BRCA2, different levels of expression of specific genes in signaling pathways, menopause status, alcohol consumption, aging, and hormone imbalances that cause IDC while p-SMAD4 expressions, DNA methylation, regulations of hub genes, and underestimation of IDC affecting prognoses. Prompt IDC diagnosis and early intervention have been reported to demonstrate a greater probability of eradicating IDC and preventing further recurrence in the future. It is crucial for physicians and researchers to equip patients with the best information possible to proactively manage their health, whether it be for IDC prevention or treatment. Overall, our review provided a comprehensive understanding of IDC that enables patients to grasp the nature of the disease with the hope of mitigating IDC risk, decrease the anxiety of a cancer diagnosis, and encourage patients to become more involved in making informed decisions for their healthcare.},
}

@article {pmid39805165,
year = {2025},
author = {Michelon, I and Castro, CER and Madeira, T and Dacoregio, MI and Stecca, C and Soares, LR and Saeed, A and Vilbert, M and Cavalcante, L},
title = {Trastuzumab deruxtecan in human epidermal growth factor receptor 2-positive breast cancer brain metastases: A systematic review and updated meta-analysis.},
journal = {Cancer treatment reviews},
volume = {133},
number = {},
pages = {102882},
doi = {10.1016/j.ctrv.2025.102882},
pmid = {39805165},
issn = {1532-1967},
mesh = {Humans ; *Breast Neoplasms/drug therapy/pathology/metabolism ; *Trastuzumab/therapeutic use/pharmacology ; Receptor, ErbB-2/metabolism ; *Brain Neoplasms/secondary/drug therapy/metabolism ; Female ; *Immunoconjugates/therapeutic use ; *Antineoplastic Agents, Immunological/therapeutic use ; Camptothecin/analogs & derivatives ; },
abstract = {BACKGROUND: Trastuzumab deruxtecan (T-DXd) has shown promising activity in patients with human epidermal growth factor receptor 2 (HER2)-positive breast cancer (BC) and central nervous system (CNS) involvement. In this updated meta-analysis, we explore the effectiveness of T-DXd in a large subset of patients with HER2-positive BC and CNS disease.

METHODS: A systematic search was made on September 16th, 2024, for studies investigating T-DXd in the scenario of HER2-positive BC and brain metastases (BMs) and/or leptomeningeal disease (LMD). We used random effects models for all statistical analyses.

RESULTS: We included 18 studies with 786 HER2-positive BC patients with CNS involvement (16 studies with 750 BMs patients and three studies with 36 LMD patients). We observed high overall antitumor responses (objective response rate [ORR], 60.4 %; disease control rate [DCR], 94.4 %; and clinical benefit rate [CBR], 79.3 %) and a 12-month PFS of 64.7 % and OS of 82.7 %. Intracranial ORR, DCR, and CBR were seen in 62.2 %, 88.6 %, and 68.6 % of patients, respectively, and 67.4 % achieved intracranial PFS at 12 months. Both stable and active BMs subgroups derived similar benefit from T-DXd. Better intracranial responses were seen for 33 patients with untreated BMs compared to 56 patients with previously treated or progressing lesions (odds ratio 3.82, 95 % confidence interval 1.3-10.8, p = 0.01). For the LMD group, T-DXd elicited intracranial ORR and CBR in 59.4 % and 94.1 % of patients, respectively.

CONCLUSIONS: This updated meta-analysis continues to support the overall and intracranial activity of T-DXd in patients with HER2-positive BC and CNS involvement, including those with LMD.},
}

Humans
*Breast Neoplasms/drug therapy/pathology/metabolism
*Trastuzumab/therapeutic use/pharmacology
Receptor, ErbB-2/metabolism
*Brain Neoplasms/secondary/drug therapy/metabolism
Female
*Immunoconjugates/therapeutic use
*Antineoplastic Agents, Immunological/therapeutic use
Camptothecin/analogs & derivatives

@article {pmid39804847,
year = {2025},
author = {Wang, K and Fischer, A and Maccio, U and Zitzmann, K and Robledo, M and Lauseker, M and Bauer, J and Bechmann, N and Gahr, S and Maurer, J and Peischer, L and Reul, A and Nieß, H and Zimmermann, P and Ilmer, M and Schilbach, K and Knösel, T and Kroiss, M and Fassnacht, M and Müller, SA and Morand, GB and Huber, A and Vetter, D and Lehmann, K and Kulcsar, Z and Mohr, H and Pellegata, NS and Hantel, C and Reincke, M and Beuschlein, F and Pacak, K and Grossman, AB and Auernhammer, CJ and Nölting, S},
title = {Impact of sex hormones on pheochromocytomas, paragangliomas, and gastroenteropancreatic neuroendocrine tumors.},
journal = {European journal of endocrinology},
volume = {192},
number = {1},
pages = {46-60},
doi = {10.1093/ejendo/lvae163},
pmid = {39804847},
issn = {1479-683X},
support = {314061271 - TRR 205//German Research Foundation/ ; },
mesh = {Humans ; *Neuroendocrine Tumors/pathology/drug therapy/metabolism/genetics ; *Pheochromocytoma/pathology/drug therapy/metabolism/genetics ; *Paraganglioma/pathology/drug therapy/metabolism/genetics ; *Pancreatic Neoplasms/pathology/drug therapy/metabolism/genetics ; Female ; *Intestinal Neoplasms/pathology/drug therapy/metabolism/genetics ; Male ; *Adrenal Gland Neoplasms/pathology/drug therapy/metabolism/genetics ; *Stomach Neoplasms/drug therapy/pathology/metabolism/genetics ; *Gonadal Steroid Hormones/pharmacology ; Middle Aged ; Adult ; Estradiol/pharmacology ; Testosterone/pharmacology ; Estrogen Receptor alpha/metabolism ; Progesterone/pharmacology ; Dehydroepiandrosterone Sulfate/pharmacology ; Aged ; *Gastrointestinal Neoplasms/drug therapy/pathology/metabolism ; Cell Survival/drug effects ; },
abstract = {OBJECTIVE: The effects of sex hormones remain largely unexplored in pheochromocytomas and paragangliomas (PPGLs) and gastroenteropancreatic neuroendocrine tumors (GEP-NETs).

METHODS: We evaluated the effects of estradiol, progesterone, Dehydroepiandrosterone sulfate (DHEAS), and testosterone on human patient-derived PPGL/GEP-NET primary culture cell viability (n = 38/n = 12), performed next-generation sequencing and immunohistochemical hormone receptor analysis in patient-derived PPGL tumor tissues (n = 36).

RESULTS: In PPGLs, estradiol and progesterone (1 µm) demonstrated overall significant antitumor effects with the strongest efficacy in PPGLs with NF1 (cluster 2) pathogenic variants. Estrogen receptor alpha (ERα) positivity was detected in 11/36 PPGLs, including 4/4 head-and-neck paragangliomas (HNPGLs). ERα-positive tumors responded with a significant cell viability decrease to estradiol. DHEAS and testosterone (1 µm) displayed no effects, but higher doses of testosterone (10 µm) demonstrated significant antitumor effects, including a pheochromocytoma lung metastasis with strong androgen receptor positivity (30%). Driven by the antitumor effects of estrogen, we evaluated G-protein-coupled estrogen receptor (GPER) agonist G-1 as a potential therapeutic option for PPGLs and found strong significant antitumor potential, with the strongest efficacy in tumors with NF1 pathogenic variants. Moreover, we detected sex-related differences-tumors from male patients showed significantly stronger responsivity to G-1 compared with tumors from female patients. In GEP-NETs, sex hormones showed overall no effects, especially no tumor growth-promoting effects.

CONCLUSION: We provide novel data on the effects of elevated sex hormone levels, potentially seen during pregnancy or hormone replacement therapy, on PPGL/GEP-NET tumor growth. G-1 might offer a novel therapeutic approach for some PPGLs depending on patient's sex and the individual tumor's genetic/molecular background. All HNPGLs showed ERα positivity.},
}

Humans
*Neuroendocrine Tumors/pathology/drug therapy/metabolism/genetics
*Pheochromocytoma/pathology/drug therapy/metabolism/genetics
*Paraganglioma/pathology/drug therapy/metabolism/genetics
*Pancreatic Neoplasms/pathology/drug therapy/metabolism/genetics
Female
*Intestinal Neoplasms/pathology/drug therapy/metabolism/genetics
Male
*Adrenal Gland Neoplasms/pathology/drug therapy/metabolism/genetics
*Stomach Neoplasms/drug therapy/pathology/metabolism/genetics
*Gonadal Steroid Hormones/pharmacology
Middle Aged
Adult
Estradiol/pharmacology
Testosterone/pharmacology
Estrogen Receptor alpha/metabolism
Progesterone/pharmacology
Dehydroepiandrosterone Sulfate/pharmacology
Aged
*Gastrointestinal Neoplasms/drug therapy/pathology/metabolism
Cell Survival/drug effects

@article {pmid39799921,
year = {2025},
author = {Fu, J and Wang, J and Ma, Z and Yuan, D and Zhang, Y and Wang, L and Luo, Y},
title = {CaCO3-coated indoxacarb deep eutectic solvent complexed with diatomaceous earth improves insecticidal activity against the red imported fire ants.},
journal = {Ecotoxicology and environmental safety},
volume = {289},
number = {},
pages = {117709},
doi = {10.1016/j.ecoenv.2025.117709},
pmid = {39799921},
issn = {1090-2414},
mesh = {Animals ; *Ants/drug effects ; *Insecticides/chemistry/toxicity ; *Oxazines/chemistry/toxicity ; *Diatomaceous Earth/chemistry ; *Calcium Carbonate/chemistry ; *Deep Eutectic Solvents/chemistry ; Nanoparticles/chemistry ; Fire Ants ; },
abstract = {The red imported fire ants (RIFAs) are a globally important invasive pest that severely affects the ecosystem and human health, and its current control is primarily through chemical pesticides. However, the extensive use of chemical pesticides causes environmental problems, and alternative strategies for controlling this pest are being explored. In our study, we aimed to design a deep eutectic solvent (DES)-CaCO3 system in which RIFAs were used as target insects to increase the lethal activity and behavioural regulation effects on RIFAs via contact and feeding. Indoxacarb (IDC) was made into DESs with three fatty acids, oleic acid (OA), linoleic acid (LA), and linolenic acid (LNA), which showed a significant increase in lethal activity against worker ants compared with IDC. OA@IDC@CaCO3, LA@IDC@CaCO3, and LNA@IDC@CaCO3 nanoparticles were prepared via interfacial precipitation. Characterization of the structures of the three pesticide-carrying nanoparticles revealed that all three fatty acid eutectic solvents formed spherical CaCO3 nanoparticles, with average particle sizes between 0.59 and 0.90 μm, which increased with increasing degree of fatty acid unsaturation. The pesticide loading ranged from 2.13 %⁓3.43 %, and the surfaces were all positively charged and well dispersed. OA@IDC@CaCO3 was relatively more effective and was able to dramatically inhibit the abandonment and foraging behaviours of RIFAs, prolong the time required for these behaviours, and decrease the number of feeding worker ants and the amount of food consumed. OA@IDC@CaCO3 was subsequently compounded with diatomaceous earth (DA), and spiked into baits, which significantly increased the contact and feeding activity of worker ants, inhibited the feeding, digging, and corpse-discarding behaviours of RIFAs. In the field trial, the combined control effect of the DA + OA@IDC@CaCO3 group was 83.38 %, which was greater than the 69.65 % of the commercial agent control group. In this study, IDC bait was co-prepared by using acid as a comelting solvent, CaCO3 as a coating, and DA as a pesticide adjuvant, which improved the activity against RIFAs, prolonged the holding period of IDC, and improved the prevention and control of RIFAs. Therefore, our research provides a simple and feasible approach for designing and constructing novel nanopesticides for RIFAs control.},
}

Animals
*Ants/drug effects
*Insecticides/chemistry/toxicity
*Oxazines/chemistry/toxicity
*Diatomaceous Earth/chemistry
*Calcium Carbonate/chemistry
*Deep Eutectic Solvents/chemistry
Nanoparticles/chemistry
Fire Ants

@article {pmid39795975,
year = {2024},
author = {Caca, J and Bartelt, A and Egea, V},
title = {Hypoxia Regulates Brown Adipocyte Differentiation and Stimulates miR-210 by HIF-1α.},
journal = {International journal of molecular sciences},
volume = {26},
number = {1},
pages = {},
pmid = {39795975},
issn = {1422-0067},
mesh = {*MicroRNAs/genetics/metabolism ; Animals ; *Hypoxia-Inducible Factor 1, alpha Subunit/metabolism/genetics ; *Adipocytes, Brown/metabolism/cytology ; *Cell Differentiation/genetics ; Mice ; Thermogenesis/genetics ; Cell Hypoxia ; },
abstract = {MicroRNAs (miRNAs) are short sequences of single-stranded non-coding RNAs that target messenger RNAs, leading to their repression or decay. Interestingly, miRNAs play a role in the cellular response to low oxygen levels, known as hypoxia, which is associated with reactive oxygen species and oxidative stress. However, the physiological implications of hypoxia-induced miRNAs ("hypoxamiRs") remain largely unclear. Here, we investigate the role of miR-210 in brown adipocyte differentiation and thermogenesis. We treated the cells under sympathetic stimulation with hypoxia, CoCl2, or IOX2. To manipulate miR-210, we performed reverse transfection with antagomiRs. Adipocyte markers expression, lipid accumulation, lipolysis, and oxygen consumption were measured. Hypoxia hindered BAT differentiation and suppressed sympathetic stimulation. Hypoxia-induced HIF-1α stabilization increased miR-210 in brown adipocytes. Interestingly, miR-210-5p enhanced differentiation under normoxic conditions but was insufficient to rescue the inhibition of brown adipocyte differentiation under hypoxic conditions. Although adrenergic stimulation activated HIF-1α signaling and upregulated miR-210 expression, inhibition of miR-210-5p did not significantly influence UCP1 expression or oxygen consumption. In summary, hypoxia and adrenergic stimulation upregulated miR-210, which impacted brown adipocyte differentiation and thermogenesis. These findings offer new insights for the physiological role of hypoxamiRs in brown adipose tissue, which could aid in understanding oxidative stress and treatment of metabolic disorders.},
}

*MicroRNAs/genetics/metabolism
Animals
*Hypoxia-Inducible Factor 1, alpha Subunit/metabolism/genetics
*Adipocytes, Brown/metabolism/cytology
*Cell Differentiation/genetics
Mice
Thermogenesis/genetics
Cell Hypoxia

@article {pmid39788307,
year = {2025},
author = {Doan, VTH and Imai, T and Kawazoe, N and Chen, G and Yoshitomi, T},
title = {Regulation of antigen presentation and interleukin 10 production in murine dendritic cells via the oxidative stimulation of cell membrane using a polycation-porphyrin-conjugate-immobilized cell culture dish.},
journal = {Acta biomaterialia},
volume = {193},
number = {},
pages = {231-241},
doi = {10.1016/j.actbio.2025.01.004},
pmid = {39788307},
issn = {1878-7568},
mesh = {Animals ; *Dendritic Cells/cytology/metabolism/immunology/drug effects ; *Porphyrins/chemistry/pharmacology ; *Cell Membrane/metabolism/drug effects ; *Interleukin-10/biosynthesis ; Mice ; *Antigen Presentation/drug effects ; Polyelectrolytes ; Oxidation-Reduction ; *Cells, Immobilized/metabolism/cytology ; *Polyamines/chemistry/pharmacology ; },
abstract = {Tolerogenic dendritic cells with professional antigen presentation via major histocompatibility complex molecules, co-stimulatory molecules (CD80/86), and interleukin 10 production have attracted significant attention as cellular therapies for autoimmune, allergic, and graft-versus-host diseases. In this study, we developed a cell culture dish equipped with polycation-porphyrin-conjugate-immobilized glass (PA-HP-G) to stimulate immature murine dendritic cell (iDCs). Upon irradiation with a red light at 635 nm toward the PA-HP-G surface, singlet oxygen was generated by the immobilized porphyrins on the PA-HP-G surface. When iDCs were cultured on the PA-HP-G surface, moderate light irradiation generated lipid radicals without excessive generation of reactive oxygen species in the cytoplasm and nucleus, which led to the oxidative stimulation of the iDC cell membrane without cell death. Light irradiation changed the morphology of dendritic cells on the PA-HP-G surface to a tree-like structure with dendrites, accelerated their maturation, and enhanced the antigen-presenting ability for the ovalbumin peptide via major histocompatibility complex class I molecules. Additionally, the antigen-presenting dendritic cells on the PA-HP-G surface produced the anti-inflammatory cytokine interleukin 10 upon light irradiation. These results indicated that upon moderate light irradiation, the PA-HP-G surface regulated the maturation of iDCs into tolerogenic dendritic cells. STATEMENT OF SIGNIFICANCE: • Cell culture dish is developed for selective oxidative stimulus of cell membrane. • [1]O2 is generated from polycation/porphyrin-immobilized glass by light irradiation. • Lipid radicals are generated without generation of ROS in cytoplasm and nuclei. • Immature dendritic cells are maturated by oxidative stimulation of cell membrane. • Oxidative membrane stimulus enhances antigen-presentation and IL-10 secretion.},
}

Animals
*Dendritic Cells/cytology/metabolism/immunology/drug effects
*Porphyrins/chemistry/pharmacology
*Cell Membrane/metabolism/drug effects
*Interleukin-10/biosynthesis
Mice
*Antigen Presentation/drug effects
Polyelectrolytes
Oxidation-Reduction
*Cells, Immobilized/metabolism/cytology
*Polyamines/chemistry/pharmacology

@article {pmid39724992,
year = {2025},
author = {Wang, Y and Zhang, J and Wang, Y and Liu, Y and Shi, B and Li, X and He, J and Zhang, H},
title = {Lower expression of MMP2, FLNA, and CFL1 is correlated with favorable prognosis in invasive micropapillary breast cancer.},
journal = {Gene},
volume = {940},
number = {},
pages = {149192},
doi = {10.1016/j.gene.2024.149192},
pmid = {39724992},
issn = {1879-0038},
mesh = {Humans ; *Breast Neoplasms/genetics/pathology/metabolism/mortality ; Female ; Prognosis ; *Matrix Metalloproteinase 2/genetics/metabolism ; *Filamins/genetics/metabolism ; Middle Aged ; Biomarkers, Tumor/genetics ; Gene Expression Regulation, Neoplastic ; Retrospective Studies ; *Carcinoma, Papillary/genetics/pathology/metabolism/mortality ; *Carcinoma, Ductal, Breast/genetics/pathology ; Nomograms ; Aged ; },
abstract = {PURPOSE: Despite its recognized aggressive clinical manifestations, invasive micropapillary carcinoma has a controversial prognosis in comparison to invasive ductal carcinoma of the breast. This retrospective study aimed to explore the prognosis and underlying molecular mechanisms of invasive micropapillary carcinoma.

METHODS: Through the SEER database, we compared patients survival outcomes with invasive micropapillary carcinoma versus invasive ductal carcinoma, and developed a nomogram to predict the overall survival of the former group. We explored gene profiles of invasive micropapillary carcinoma in the GEO database. Hub genes were identified as the top ten genes in the PPI network with the highest degrees of connectivity, and three of them were selected for validation by immunohistochemistry.

RESULTS: Invasive micropapillary carcinoma patients had better overall survival and breast cancer-specific survival than invasive ductal carcinoma patients did. Multivariate analysis revealed age, marital status, TN stage, ER status, and chemotherapy as independent prognostic factors for invasive micropapillary carcinoma patients, which were used to construct a nomogram with good performance. A total of 294 DEGs were identified, with ten hub genes, including MMP2, FLNA and CFL1, which were expressed at lower levels in invasive micropapillary carcinoma patients than in invasive ductal carcinoma patients, indicating favorable outcomes.

CONCLUSIONS: Patients with invasive micropapillary carcinoma generally have a better prognosis than those with invasive ductal carcinoma does, which could be attributed to the lower expression of pro-oncogenic genes in the former group; however, the underlying mechanism needs further investigation.},
}

Humans
*Breast Neoplasms/genetics/pathology/metabolism/mortality
Female
Prognosis
*Matrix Metalloproteinase 2/genetics/metabolism
*Filamins/genetics/metabolism
Middle Aged
Biomarkers, Tumor/genetics
Gene Expression Regulation, Neoplastic
Retrospective Studies
*Carcinoma, Papillary/genetics/pathology/metabolism/mortality
*Carcinoma, Ductal, Breast/genetics/pathology
Nomograms
Aged

@article {pmid39721789,
year = {2024},
author = {Nagahara, M and Tezuka, K},
title = {[Invasive Ductal Carcinoma with Total Infarction and Necrosis-Case Report and Literature Review].},
journal = {Gan to kagaku ryoho. Cancer & chemotherapy},
volume = {51},
number = {12},
pages = {1255-1258},
pmid = {39721789},
issn = {0385-0684},
mesh = {Humans ; Female ; Aged ; *Necrosis ; *Breast Neoplasms/pathology/complications/surgery ; *Infarction/etiology/pathology ; *Carcinoma, Ductal, Breast/complications/pathology/surgery ; Mastectomy ; },
abstract = {A 71-year-old woman visited our hospital with pain and itching in her left breast which had commenced the day before admission. On palpation, we detected a 2.0 cm nodule, indicative of an elastic and hard tumor located centrally in the left breast. Mammography revealed an oval, microlobulated mass in the central quadrant of the left breast. Ultrasonography indicated a 1.5×1.3 cm hypoechoic lesion at the 12 o'clock position near the left nipple. Core needle biopsy revealed an invasive ductal carcinoma. Therefore, we mastectomized the left breast. Histologically, the tumor mass exhibited total necrosis, with viable carcinoma cells detected in a paramammary lymph node at the resected breast edge. Consequently, the tumor was diagnosed as a solid tubular carcinoma with total infarction and necrosis. Here, we present a rare case of breast cancer associated with infarction and necrosis.},
}

Humans
Female
Aged
*Necrosis
*Breast Neoplasms/pathology/complications/surgery
*Infarction/etiology/pathology
*Carcinoma, Ductal, Breast/complications/pathology/surgery
Mastectomy

@article {pmid39710328,
year = {2025},
author = {Denimal, L and Klein, C and Capon, G and Alezra, E and Bernhard, JC and Estrade, V and Blanc, P and Bladou, F and Robert, G},
title = {Impact of clean intermittent self-catheterization and indwelling catheterization on perioperative outcomes in patients with urinary retention undergoing BPH surgery: A comparative monocentric retrospective study.},
journal = {The French journal of urology},
volume = {35},
number = {1},
pages = {102851},
doi = {10.1016/j.fjurol.2024.102851},
pmid = {39710328},
issn = {2950-3930},
mesh = {Humans ; Male ; *Urinary Retention/etiology/therapy ; *Prostatic Hyperplasia/surgery/complications ; Retrospective Studies ; Aged ; *Catheters, Indwelling/adverse effects ; Treatment Outcome ; Postoperative Complications/epidemiology/etiology ; Middle Aged ; *Intermittent Urethral Catheterization/methods ; Aged, 80 and over ; *Prostatectomy ; Urinary Catheterization ; Self Care ; },
abstract = {INTRODUCTION AND OBJECTIVES: In case of acute urinary retention (AUR) due to benign prostatic hyperplasia (BPH) first trial without catheter (TWOC) may fail in about 30% of cases. In this situation most of patients have to keep an indwelling catheter (IDC) or to perform clean intermittent self-catheterization (CISC) until surgery. Although CISC has shown several advantages over IDC in neurologic patients, it is barely proposed in case of acute or chronic urinary retention due to BPH and comparative data on the outcomes of BPH surgery are very sparse. The aim of this study was to evaluate peri-operative outcomes of BPH surgery depending on the type of urinary drainage (IDC or CISC) in a population of patients with acute or chronic urinary retention and TWOC failure.

PATIENTS AND METHOD: We retrospectively analyzed a prospectively maintained database on BPH surgery to retrieve the records of all men admitted for surgical treatment of BPH following acute or chronic urinary retention with TWOC failure over a one-year period of time (January to December 2022). Two groups were constituted depending on the type of urinary drainage at the time of surgery (IDC or CISC). Peri-operative outcomes were compared between groups regarding pre-operative urine culture, antibiotic consumption, post-operative complications, length of hospital stay, and spontaneous voiding after catheter removal.

RESULTS: Between January and December 2022, 59 patients underwent BPH surgery after urinary retention and TWOC failure. At the time of surgery, 28 patients were on IDC (47%) and 31 patients were on CISC (53%). Despite a shorter delay between AUR and surgery in the IDC group (42days vs. 80days, P<0.01), patients had a significantly higher rate of pre-operative positive urine culture (100% vs. 51.6%, P<0.01), received antibiotics more frequently (93% vs. 42%, P<0.01), had a higher rate of post-operative complications (50% vs. 13%, P<0.01), stayed longer in the hospital (3days vs. 2days, P=0.02), and had a higher rate of post-operative retention (36% vs. 6.5%, P<0.01).

CONCLUSION: In our experience, the use of CISC before BPH surgery improved peri-operative outcomes as compared to IDC. CISC reduced antibiotic consumption, post-operative complications, length of hospital stay, and improved micturition recovery after catheter removal.},
}

Humans
Male
*Urinary Retention/etiology/therapy
*Prostatic Hyperplasia/surgery/complications
Retrospective Studies
Aged
*Catheters, Indwelling/adverse effects
Treatment Outcome
Postoperative Complications/epidemiology/etiology
Middle Aged
*Intermittent Urethral Catheterization/methods
Aged, 80 and over
*Prostatectomy
Urinary Catheterization
Self Care

@article {pmid39708123,
year = {2024},
author = {Xie, T and Fan, G and Tang, L and Xing, P and Shi, Y},
title = {Artificial neural network systems to predict the response to sintilimab in squamous-cell non-small-cell lung cancer based on data of ORIENT-3 study.},
journal = {Cancer immunology, immunotherapy : CII},
volume = {74},
number = {1},
pages = {29},
pmid = {39708123},
issn = {1432-0851},
mesh = {Humans ; *Carcinoma, Non-Small-Cell Lung/drug therapy/immunology ; *Neural Networks, Computer ; *Lung Neoplasms/drug therapy/immunology ; *Antibodies, Monoclonal, Humanized/therapeutic use ; Male ; Female ; Biomarkers, Tumor ; Prognosis ; Middle Aged ; Carcinoma, Squamous Cell/drug therapy/immunology ; Aged ; },
abstract = {BACKGROUND: Existing biomarkers and models for predicting response to programmed cell death protein 1 monoclonal antibody in advanced squamous-cell non-small cell lung cancer (sqNSCLC) did not have enough accuracy. We used data from the ORIENT-3 study to construct artificial neural network (ANN) systems to predict the response to sintilimab for sqNSCLC.

METHODS: Four ANN systems based on bulk RNA data to predict disease control (DC), immune DC (iDC), objective response (OR) and immune OR (iOR) were constructed and tested for patients with sqNSCLC treated with sintilimab. The mechanism exploration on the bulk and the spatial level were performed in patients from the ORIENT-3 study and the real world, respectively.

FINDINGS: sqNSCLC patients with different responses to sintilimab showed each unique transcriptomic spectrum. Four ANN systems showed high accuracy in the test cohort (AUC of DC, iDC, OR and iOR were 0.83, 0.89, 0.93 and 0.94, respectively). The performance of ANN systems was better than that of linear model systems and showed high stability. The mechanism exploration on the bulk level suggested that patients with lower ANN system scores (worse response) had a higher ratio of immune-related pathways enrichment. The mechanism exploration on the spatial level indicated that patients with better response to immunotherapy had fewer clusters of both tumor and cytotoxicity T cell spots.

INTERPRETATION: The four ANN systems showed high accuracy, robustness and stability in predicting the response to sintilimab for patients with sqNSCLC.},
}

Humans
*Carcinoma, Non-Small-Cell Lung/drug therapy/immunology
*Neural Networks, Computer
*Lung Neoplasms/drug therapy/immunology
*Antibodies, Monoclonal, Humanized/therapeutic use
Male
Female
Biomarkers, Tumor
Prognosis
Middle Aged
Carcinoma, Squamous Cell/drug therapy/immunology
Aged

@article {pmid39684874,
year = {2024},
author = {Galappaththi, SPL and Smith, KR and Alsatari, ES and Hunter, R and Dyess, DL and Turbat-Herrera, EA and Dasgupta, S},
title = {The Genomic and Biologic Landscapes of Breast Cancer and Racial Differences.},
journal = {International journal of molecular sciences},
volume = {25},
number = {23},
pages = {},
pmid = {39684874},
issn = {1422-0067},
support = {1R21MD019400-01/MD/NIMHD NIH HHS/United States ; },
mesh = {Humans ; *Breast Neoplasms/genetics/pathology/epidemiology ; Female ; *Genomics/methods ; Dysbiosis ; Racial Groups/genetics ; },
abstract = {Breast cancer is a significant health challenge worldwide and is the most frequently diagnosed cancer among women globally. This review provides a comprehensive overview of breast cancer biology, genomics, and microbial dysbiosis, focusing on its various subtypes and racial differences. Breast cancer is primarily classified into carcinomas and sarcomas, with carcinomas constituting most cases. Epidemiology and breast cancer risk factors are important for public health intervention. Staging and grading, based on the TNM and Nottingham grading systems, respectively, are crucial to determining the clinical outcome and treatment decisions. Histopathological subtypes include in situ and invasive carcinomas, such as invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC). The review explores molecular subtypes, including Luminal A, Luminal B, Basal-like (Triple Negative), and HER2-enriched, and delves into breast cancer's histological and molecular progression patterns. Recent research findings related to nuclear and mitochondrial genetic alterations, epigenetic reprogramming, and the role of microbiome dysbiosis in breast cancer and racial differences are also reported. The review also provides an update on breast cancer's current diagnostics and treatment modalities.},
}

Humans
*Breast Neoplasms/genetics/pathology/epidemiology
Female
*Genomics/methods
Dysbiosis
Racial Groups/genetics

@article {pmid39684409,
year = {2024},
author = {Feng, M and Cui, H and Li, S and Li, L and Zhou, C and Chen, L and Cao, Y and Gao, Y and Li, D},
title = {Ubiquitin-Activating Enzyme E1 (UBA1) as a Prognostic Biomarker and Therapeutic Target in Breast Cancer: Insights into Immune Infiltration and Functional Implications.},
journal = {International journal of molecular sciences},
volume = {25},
number = {23},
pages = {},
pmid = {39684409},
issn = {1422-0067},
support = {22YF1407800//Shanghai Municipal Commission of Science and Technology/ ; No.82103429//National Natural Science Foundation of China/ ; No.82303311//National Natural Science Foundation of China/ ; },
mesh = {Humans ; *Breast Neoplasms/genetics/immunology/pathology/metabolism ; Female ; *Ubiquitin-Activating Enzymes/genetics/metabolism ; *Biomarkers, Tumor/genetics/metabolism ; Prognosis ; *Gene Expression Regulation, Neoplastic ; Cell Line, Tumor ; },
abstract = {Ubiquitin-Activating Enzyme E1 (UBA1), an E1 enzyme involved in the activation of ubiquitin enzymes, has been involved in the onset and progression of different cancers in humans. Nevertheless, the precise contribution of UBA1 in breast cancer (BC) is still poorly characterized. In this study, a thorough investigation was carried out to elucidate the significance of UBA1 and validate its functionality in BC. Through the analysis of mRNA sequencing data of BC patients, the mRNA expression of UBA1 was observed to be notably enhanced in cancer tissues relative to controls, and high UBA1 expression was linked to worse overall survival (OS), disease-specific survival (DSS), and progress-free survival (PFS). Moreover, UBA1 exhibited potential as an independent prognostic and diagnostic biomarker for individuals with BC. Additionally, functional enrichment analysis revealed the involvement of UBA1 in inflammation-linked pathways, like the TNF-α signaling pathway, the IL-6 signaling pathway, and various immune-related biological processes. Notably, single-sample gene set enrichment analysis (ssGSEA) aided in the identification of a negative link between UBA1 expression and the levels of infiltrating mast cells, Th1 cells, iDC cells, B cells, DC cells, Tem cells, Cytotoxic cells, T cells, CD8T cells, and pDC cells. Finally, this study demonstrated that silencing UBA1 significantly impeded the growth and development of BC cell lines. These findings highlight UBA1 as a potential prognostic biomarker linked to immune infiltration in BC, thereby depicting its potential as a new therapeutic target for individuals with BC.},
}

Humans
*Breast Neoplasms/genetics/immunology/pathology/metabolism
Female
*Ubiquitin-Activating Enzymes/genetics/metabolism
*Biomarkers, Tumor/genetics/metabolism
Prognosis
*Gene Expression Regulation, Neoplastic
Cell Line, Tumor

@article {pmid39654368,
year = {2025},
author = {Krings, G and Shamir, ER and Laé, M and Bean, GR and Post, MD and Schnitt, SJ and Chen, YY},
title = {Serous-like breast carcinomas: immunophenotypic, genetic, and clinicopathologic characterization of a morphologically distinct group of tumours.},
journal = {Histopathology},
volume = {86},
number = {5},
pages = {779-792},
doi = {10.1111/his.15385},
pmid = {39654368},
issn = {1365-2559},
mesh = {Humans ; Female ; Middle Aged ; *Breast Neoplasms/pathology/genetics ; Adult ; Aged ; Biomarkers, Tumor/analysis ; Immunophenotyping ; *Cystadenocarcinoma, Serous/pathology/genetics/diagnosis ; Diagnosis, Differential ; Aged, 80 and over ; },
abstract = {AIMS: Unusual morphologic patterns of breast carcinomas can raise diagnostic consideration for metastasis or special breast cancer subtypes with management implications. We describe rare invasive breast cancers that mimic serous carcinoma of the gynaecologic tract (serous-like breast carcinomas, SLBC) and characterize their clinicopathologic, immunophenotypic, and genetic features.

METHODS AND RESULTS: All patients were female (n = 15, median age 49 years) without a history of gynaecologic malignancy. SLBC were characterized histologically by angulated, branched, sometimes anastomosing glands with micropapillary and/or pseudopapillary luminal projections in desmoplastic stroma. Most SLBC were triple-negative (TN, n = 10) or HER2-positive (n = 2) and grade 2 or 3, while some were oestrogen receptor (ER) low-positive/HER2-negative and low-grade (n = 3). CK5/6 was positive irrespective of grade or receptor status (10/10). All SLBC expressed GATA3 (14/15), TRPS1 (7/7), and/or mammaglobin (4/13). SOX10 was positive in most TN (9/10) and all ER low-positive (3/3) cases, but negative in HER2-positive tumours. WT1 was universally negative, and PAX8 was focal in one mammaglobin-positive tumour. All ER-negative SLBC were p53-aberrant and 9/11 were p16-aberrant, whereas ER-positive tumours were wildtype for both markers (3/3). TP53 was the only frequently mutated gene, altered in all ER-negative (10/10) but no ER-positive (0/4) tumours. Clinical behaviour was variable. Only 1/6 patients achieved pathologic complete response to neoadjuvant chemotherapy.

CONCLUSION: SLBC is a rare morphologic pattern of invasive breast carcinoma that mimics metastatic serous gynaecologic carcinoma, a potential diagnostic pitfall. SLBC are heterogeneous with respect to grade, receptor profile, and oncogenic driver alterations, without specific genetic underpinnings identified. Additional studies are warranted to further evaluate the clinical behaviour of these tumours.},
}

Humans
Female
Middle Aged
*Breast Neoplasms/pathology/genetics
Adult
Aged
Biomarkers, Tumor/analysis
Immunophenotyping
*Cystadenocarcinoma, Serous/pathology/genetics/diagnosis
Diagnosis, Differential
Aged, 80 and over

@article {pmid39654135,
year = {2024},
author = {Rasheed, U and Khalid, M and Noor, A and Saeed, U and Uppal, R and Zafar, S},
title = {Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.},
journal = {Prion},
volume = {18},
number = {1},
pages = {1-7},
pmid = {39654135},
issn = {1933-690X},
mesh = {Humans ; Pakistan ; *Prion Proteins/genetics ; *Genotype ; *Apolipoproteins E/genetics ; Female ; Male ; Polymorphism, Genetic/genetics ; Creutzfeldt-Jakob Syndrome/genetics ; Dementia/genetics ; Mutation/genetics ; Alleles ; Gene Frequency/genetics ; Middle Aged ; Alzheimer Disease/genetics ; Aged ; },
abstract = {Rapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples (n = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction. In the analysis of the APOE genotype, ε3/ε3 genotype was the most common (95%), followed by ε3/ε4 (5%) and ε2 allele was completely absent. A low frequency of ε4 allele and the absence of a protective ε2 allele is associated with an increased risk of rpAD. In the case of PRNP mutations, the most common genotype was M129-Ε200 (71%) and V129-Ε200 (29%). E200K mutation was completely absent from the given population. It is noteworthy that the MM homozygous genotype was present in 71 samples, VV genotype was present in 29. Homozygosity on codon 129, as observed in most of our samples, has been associated with more efficient production of PrP[Sc] and disease pathology. This study provides preliminary data indicating that rpAD and CJD pose a significant threat to the Pakistani population.},
}

Humans
Pakistan
*Prion Proteins/genetics
*Genotype
*Apolipoproteins E/genetics
Female
Male
Polymorphism, Genetic/genetics
Creutzfeldt-Jakob Syndrome/genetics
Dementia/genetics
Mutation/genetics
Alleles
Gene Frequency/genetics
Middle Aged
Alzheimer Disease/genetics
Aged

@article {pmid39645755,
year = {2024},
author = {Parmar, DS and Thakur, MN and Agarwal, I and Ganesh, SR and Vogel, G},
title = {Report of stray sightings of Dendrelaphis proarchos (Wall, 1909) (Serpentes: Colubridae) in Surat, Gujarat, western India.},
journal = {Zootaxa},
volume = {5433},
number = {2},
pages = {231-248},
doi = {10.11646/zootaxa.5433.2.4},
pmid = {39645755},
issn = {1175-5334},
mesh = {Animals ; India ; Male ; *Animal Distribution ; Female ; *Colubridae/anatomy & histology/classification/growth & development ; Animal Structures/anatomy & histology/growth & development ; Body Size ; Ecosystem ; Organ Size ; Humans ; },
abstract = {We here report on likely human-mediated, stray sightings of Dendrelaphis proarchos (Wall, 1909) in an unnatural range-Surat, Gujarat in western India. This population shows the following characters: (1) vertebral scales distinctly enlarged, larger than the dorsals of the first row; (2) 185-194 ventrals; (3) 139-142 divided subcaudals in complete tails; (4) 15 dorsal scale rows at midbody; (5) cloacal shield undivided; (6) one loreal scale; (7) three supralabials touching the eye; (8) a moderate first sublabial that touches two infralabials; (9) 11-12 temporal scales; (10) preoculars 1 or 2; (11) two or three postoculars; (12) maximum total length 1150 mm; (13) interparietal spot absent; (14) a black temporal stripe that does not starts on the postnasal or loreal but starts on the center of the eye follows postoculars (middle or second postocular) covers the majority of the temporal region and extends onto the neck; (15) a distinct, bright ventrolateral stripe bordered by one black line at the bottom; (16) dorsal interstitial color blue and (17) tongue color red with black tip. Data from a partial fragment of the mitochondrial 16S gene also reveal genetic congruence with published sequences from Sagaing and Ayeyarwady in Myanmar and Mizoram, India, further attesting the morphological conclusions. Absence of any sighting of this form in the wild despite long-term (> 15 years) studies in south Gujarat by us, the lack of previous reports of this population especially in natural habitats in Gujarat by colleagues, and reports of many such stray populations of non-native herpetofauna in the coastal port city of Surat together, indicate an unnatural, probably human-mediated, transportation of D. proarchos to Surat. Such likely human-mediated introductions of species outside their native range are a cause for concern and require awareness campaigns among snake rescuers not to 'release' such snakes in the Gujarat forests, but to keep them in zoos or return to the actual point of wild origin, if known or feasible.},
}

Animals
India
Male
*Animal Distribution
Female
*Colubridae/anatomy & histology/classification/growth & development
Animal Structures/anatomy & histology/growth & development
Body Size
Ecosystem
Organ Size
Humans

@article {pmid39639228,
year = {2024},
author = {Hu, J and Ke, J and Xu, S and Pei, L and Cao, L and Zhou, H and Zhu, X},
title = {The combination of focal breast edema and adjacent vessel sign to assess the behavior of mass-type invasive ductal carcinoma.},
journal = {BMC medical imaging},
volume = {24},
number = {1},
pages = {332},
pmid = {39639228},
issn = {1471-2342},
mesh = {Humans ; Female ; *Breast Neoplasms/diagnostic imaging/pathology/complications ; Middle Aged ; Retrospective Studies ; *Carcinoma, Ductal, Breast/diagnostic imaging/pathology/complications ; *Magnetic Resonance Imaging/methods ; *Edema/diagnostic imaging/pathology ; Adult ; Aged ; Breast/diagnostic imaging/pathology/blood supply ; Lymphatic Metastasis/diagnostic imaging ; Neoplasm Invasiveness ; Neoplasm Grading ; },
abstract = {BACKGROUND: The objective of this study was to investigate the association between focal breast edema (FBE) and adjacent vessel sign (AVS) with tumor size, histologic grade, lymphovascular invasion, axillary lymph node status, Ki-67 index, and molecular subtype in breast cancer. These findings have provided valuable insights into the biological characteristics and prognosis of mass-type invasive ductal carcinoma (M-IDC).

METHODS: We retrospectively included patients with M-IDC between January 2016 and December 2021. FBE was evaluated using T2-weighted sequence. AVS was assessed using maximum-intensity projection images obtained using early dynamic contrast-enhanced magnetic resonance imaging. The breast peritumor score (BPS) was defined as follows: BPS 1, absence of both edema and AVS; BPS 2, AVS without edema; BPS 3, AVS with peritumoral edema; BPS 4, AVS with prepectoral edema; and BPS 5, AVS with subcutaneous edema. The correlation between different BPS scores and clinicopathological variables was examined using Kendall's tau-b correlation coefficient. The DeLong test was used to compare the performances of three clinicopathological models combined with peritumoral features (FBE, AVS, and BPS) in predicting luminal A-like M-IDC.

RESULTS: In 228 patients with M-IDC, BPS was positively correlated with tumor size, histologic grade, lymphovascular invasion, axillary lymph node status, Ki-67 index, and negatively correlated with estrogen receptor expression (all P < 0.05). Furthermore, BPS 1 was more likely to be present in patients with luminal A-like breast cancer (P < 0.001). Among the three prediction models, the clinicopathological model combined with the BPS model demonstrated superior diagnostic performance for luminal A-like breast cancer.

CONCLUSIONS: The BPS is a valuable, non-invasive biomarker for assessing the aggressiveness of M-IDC and can facilitate treatment planning.},
}

Humans
Female
*Breast Neoplasms/diagnostic imaging/pathology/complications
Middle Aged
Retrospective Studies
*Carcinoma, Ductal, Breast/diagnostic imaging/pathology/complications
*Magnetic Resonance Imaging/methods
*Edema/diagnostic imaging/pathology
Adult
Aged
Breast/diagnostic imaging/pathology/blood supply
Lymphatic Metastasis/diagnostic imaging
Neoplasm Invasiveness
Neoplasm Grading

@article {pmid39639029,
year = {2024},
author = {Nayak, S and Peto, TJ and Kucharski, M and Tripura, R and Callery, JJ and Quang Huy, DT and Gendrot, M and Lek, D and Nghia, HDT and van der Pluijm, RW and Dong, N and Long, LT and Vongpromek, R and Rekol, H and Hoang Chau, N and Miotto, O and Mukaka, M and Dhorda, M and von Seidlein, L and Imwong, M and Roca, X and Day, NPJ and White, NJ and Dondorp, AM and Bozdech, Z},
title = {Population genomics and transcriptomics of Plasmodium falciparum in Cambodia and Vietnam uncover key components of the artemisinin resistance genetic background.},
journal = {Nature communications},
volume = {15},
number = {1},
pages = {10625},
pmid = {39639029},
issn = {2041-1723},
mesh = {*Artemisinins/pharmacology/therapeutic use ; *Plasmodium falciparum/genetics/drug effects ; Cambodia ; *Drug Resistance/genetics ; Humans ; *Malaria, Falciparum/parasitology/drug therapy ; *Antimalarials/pharmacology/therapeutic use ; *Polymorphism, Single Nucleotide ; Vietnam ; Protozoan Proteins/genetics/metabolism ; Transcriptome ; Genomics ; Gene Expression Profiling ; },
abstract = {The emergence of Plasmodium falciparum parasites resistant to artemisinins compromises the efficacy of Artemisinin Combination Therapies (ACTs), the global first-line malaria treatment. Artemisinin resistance is a complex genetic trait in which nonsynonymous SNPs in PfK13 cooperate with other genetic variations. Here, we present population genomic/transcriptomic analyses of P. falciparum collected from patients with uncomplicated malaria in Cambodia and Vietnam between 2018 and 2020. Besides the PfK13 SNPs, several polymorphisms, including nonsynonymous SNPs (N1131I and N821K) in PfRad5 and an intronic SNP in PfWD11 (WD40 repeat-containing protein on chromosome 11), appear to be associated with artemisinin resistance, possibly as new markers. There is also a defined set of genes whose steady-state levels of mRNA and/or splice variants or antisense transcripts correlate with artemisinin resistance at the base level. In vivo transcriptional responses to artemisinins indicate the resistant parasite's capacity to decelerate its intraerythrocytic developmental cycle (IDC), which can contribute to the resistant phenotype. During this response, PfRAD5 and PfWD11 upregulate their respective alternatively/aberrantly spliced isoforms, suggesting their contribution to the protective response to artemisinins. PfRAD5 and PfWD11 appear under selective pressure in the Greater Mekong Sub-region over the last decade, suggesting their role in the genetic background of the artemisinin resistance.},
}

*Artemisinins/pharmacology/therapeutic use
*Plasmodium falciparum/genetics/drug effects
Cambodia
*Drug Resistance/genetics
Humans
*Malaria, Falciparum/parasitology/drug therapy
*Antimalarials/pharmacology/therapeutic use
*Polymorphism, Single Nucleotide
Vietnam
Protozoan Proteins/genetics/metabolism
Transcriptome
Genomics
Gene Expression Profiling

@article {pmid39637037,
year = {2024},
author = {Jha, A and Chaudhary, RK and Shrivastav, S and Khanal, U},
title = {Ultrasonographic and pathological correlation of asymmetric retroareolar density on mammogram.},
journal = {PloS one},
volume = {19},
number = {12},
pages = {e0301180},
pmid = {39637037},
issn = {1932-6203},
mesh = {Humans ; Female ; Middle Aged ; *Mammography/methods ; Adult ; *Breast Neoplasms/diagnostic imaging/pathology ; Aged ; Nipples/diagnostic imaging/pathology ; Mastitis/diagnostic imaging/pathology ; Ultrasonography/methods ; Breast Density ; Carcinoma, Ductal, Breast/diagnostic imaging/pathology ; Ultrasonography, Mammary/methods ; },
abstract = {BACKGROUND: Retroareolar region refers to the region within two centimeters from the nipple and/or involves the nipple-areolar complex on mammogram. In this study, we graded asymmetric retroareolar density on mammography and determined the underlying cause.

OBJECTIVES: To identify and grade retroareolar densities and evaluate characteristics of lesion using ultrasonography and histopathology.

METHODS: Mammograms with asymmetric retroareolar density done in our tertiary care hospital were included. Retroareolar density was categorized into three grades based on morphological appearance in mammography. Sonography was performed in all patients and tissue diagnosis was obtained for suspicious lesions.

RESULTS: Of the 100 patients included in the study, most of the patients with mammographic grade 1, grade 2 and 3 retroareolar asymmetry had normal sonography, pathologically proven mastitis and invasive ductal carcinoma, respectively. Presenting indication usually was diagnostic (n = 87), lump being most common. Benign (58%) diagnosis was more often present, with equal number of normal studies and malignancies (21%). Frequently pathologically proven malignant lesions (n = 17) had grade 3 asymmetry and none were grade 1. Invasive ductal carcinoma was the most common malignancy while mastitis the most common benign disease.

CONCLUSIONS: Grade I retroareolar asymmetric density on mammography was normal or had a benign etiology while grade 2 or 3 asymmetric density had underlying pathology, often malignancy.

CONTRIBUTION: Grading retroareolar density in mammogram may improve the evaluation of retroareolar region and increase emphasis on higher grades.},
}

Humans
Female
Middle Aged
*Mammography/methods
Adult
*Breast Neoplasms/diagnostic imaging/pathology
Aged
Nipples/diagnostic imaging/pathology
Mastitis/diagnostic imaging/pathology
Ultrasonography/methods
Breast Density
Carcinoma, Ductal, Breast/diagnostic imaging/pathology
Ultrasonography, Mammary/methods

@article {pmid39621168,
year = {2024},
author = {Im, YJ and Yoon, YC and Sung, DH},
title = {Brachial plexopathy due to perineural tumor spread: a retrospective single-center experience of clinical manifestations, diagnosis, treatments, and outcomes.},
journal = {Acta neurochirurgica},
volume = {166},
number = {1},
pages = {490},
pmid = {39621168},
issn = {0942-0940},
mesh = {Humans ; Middle Aged ; Female ; Retrospective Studies ; *Brachial Plexus Neuropathies/diagnosis/etiology ; Male ; Adult ; *Positron Emission Tomography Computed Tomography/methods ; Aged ; *Breast Neoplasms/pathology/diagnostic imaging ; *Peripheral Nervous System Neoplasms/diagnostic imaging/pathology/diagnosis ; Lung Neoplasms/pathology/diagnostic imaging/diagnosis ; Treatment Outcome ; Magnetic Resonance Imaging ; Carcinoma, Ductal, Breast/pathology/diagnostic imaging/diagnosis ; Thyroid Cancer, Papillary/pathology/diagnostic imaging/diagnosis/surgery/therapy ; Fluorodeoxyglucose F18 ; Brachial Plexus/pathology/diagnostic imaging ; Adenocarcinoma of Lung/pathology/diagnostic imaging/diagnosis ; },
abstract = {BACKGROUND: Perineural tumor spread (PNTS) to the brachial plexus (BP) is a rare and challenging condition. This study aimed to elucidate the clinical presentations, diagnostic challenges, and outcomes of patients with PNTS to the BP.

METHODS: We retrospectively reviewed patients diagnosed with PNTS to the BP at our institution between January 2009 and June 2024. Clinical characteristics, magnetic resonance imaging (MRI), [18]F-fluorodeoxyglucose ([18]F-FDG) positron emission tomography/computed tomography (PET/CT) findings, and treatment outcomes were analyzed.

RESULTS: Seven patients (mean age, 50.3 years) were identified. The primary cancer diagnoses included invasive ductal carcinoma of the breast (n = 3), metaplastic carcinoma of the breast (n = 1), lung adenocarcinoma (n = 2), and papillary thyroid carcinoma (n = 1). The median time from the initial cancer diagnosis to PNTS symptom onset was 71.0 months. All patients initially presented with progressive unilateral pain or paresthesia, followed by motor weakness. Lower trunk plexopathy was the most common electrodiagnostic finding (n = 5). In most patients, BP MRI showed diffuse tubular enlargement and T2 hyperintensity throughout the BP (n = 6), with gadolinium enhancement primarily in the proximal regions (n = 7). [18]F-FDG PET/CT demonstrated increased uptake in the BP, most prominently at the cervical spinal root or trunk levels (n = 6). Despite treatment, neurological outcomes were generally poor. Six of the seven patients died after a median follow-up of 19 months post-PNTS diagnosis.

CONCLUSIONS: PNTS to the BP can occur years after initial cancer diagnosis and may signify cancer progression. A high index of suspicion is crucial for timely diagnosis, particularly in patients with cancer and progressive upper extremity symptoms. Comprehensive imaging, including BP MRI and PET/CT, is essential for diagnosis. Despite treatment, prognosis remains poor, highlighting the need for improved diagnostic and therapeutic strategies.},
}

Humans
Middle Aged
Female
Retrospective Studies
*Brachial Plexus Neuropathies/diagnosis/etiology
Male
Adult
*Positron Emission Tomography Computed Tomography/methods
Aged
*Breast Neoplasms/pathology/diagnostic imaging
*Peripheral Nervous System Neoplasms/diagnostic imaging/pathology/diagnosis
Lung Neoplasms/pathology/diagnostic imaging/diagnosis
Treatment Outcome
Magnetic Resonance Imaging
Carcinoma, Ductal, Breast/pathology/diagnostic imaging/diagnosis
Thyroid Cancer, Papillary/pathology/diagnostic imaging/diagnosis/surgery/therapy
Fluorodeoxyglucose F18
Brachial Plexus/pathology/diagnostic imaging
Adenocarcinoma of Lung/pathology/diagnostic imaging/diagnosis

@article {pmid39616738,
year = {2025},
author = {Rivera, A and Plumber, N and Louis, M and Grabill, N and Strom, P},
title = {Surgical stress as a potential trigger for spontaneous coronary artery dissection: A case report.},
journal = {International journal of surgery case reports},
volume = {126},
number = {},
pages = {110644},
pmid = {39616738},
issn = {2210-2612},
abstract = {INTRODUCTION AND IMPORTANCE: Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome, predominantly affecting women without traditional cardiovascular risk factors. It is often underdiagnosed, especially in postoperative patients, due to its atypical presentation and the challenges in distinguishing it from other causes of chest pain.

CASE PRESENTATION: We report the case of a 62-year-old woman with type 2 diabetes mellitus, hypertension, hyperlipidemia, and recent bilateral mastectomy for invasive ductal carcinoma, who presented three days post-surgery with sudden onset of chest pain radiating to her left arm. Electrocardiography revealed ST-segment depression suggestive of anterior ischemia, and cardiac biomarkers were significantly elevated. Imaging studies were limited due to recent surgery, but urgent coronary angiography identified spontaneous coronary artery dissections.

CLINICAL DISCUSSION: This case highlights the potential role of surgical stress as a precipitating factor for SCAD in patients without traditional cardiovascular risk factors. The physiological stress of major surgery may contribute to arterial wall vulnerability and dissection. Diagnostic challenges in the postoperative setting necessitate a high index of suspicion for timely identification. Conservative management was pursued, aligning with current guidelines that favor non-invasive treatment in stable SCAD cases to prevent further dissection or complications.

CONCLUSION: SCAD should be considered in the differential diagnosis of acute coronary syndrome in postoperative patients presenting with chest pain, even in the absence of significant cardiovascular risk factors. Early recognition and appropriate management are crucial for improving patient outcomes.},
}

@article {pmid39612651,
year = {2024},
author = {Shrestha, LB and Tungatt, K and Aggarwal, A and Stubis, A and Fewings, NL and Fichter, C and Akerman, A and Rodrigo, C and Tedla, N and Lee, S and Lloyd, AR and Brilot, F and Britton, WJ and Kelleher, A and Caterson, ID and Douglas, MW and Rockett, R and Tangye, SG and Triccas, JA and Turville, SG and Sandgren, KJ and Bull, RA and Cunningham, AL and , },
title = {Bivalent Omicron BA.1 vaccine booster increases memory B cell breadth and neutralising antibodies against emerging SARS-CoV-2 variants.},
journal = {EBioMedicine},
volume = {110},
number = {},
pages = {105461},
pmid = {39612651},
issn = {2352-3964},
mesh = {Humans ; *COVID-19 Vaccines/immunology/administration & dosage ; *SARS-CoV-2/immunology ; *Memory B Cells/immunology ; *COVID-19/immunology/prevention & control ; *Antibodies, Viral/immunology ; *Antibodies, Neutralizing/immunology ; *Immunization, Secondary ; *Spike Glycoprotein, Coronavirus/immunology ; Adult ; Female ; Male ; Middle Aged ; Immunologic Memory ; B-Lymphocytes/immunology ; },
abstract = {BACKGROUND: Current literature informs us that bivalent vaccines will generate a broader serum neutralizing antibody response to multiple SARS-CoV-2 variants, but studies on how this breadth relates to the memory B cell (MBC) and T cell responses are sparse. This study compared breadth of neutralising antibody, and memory B and T cell responses to monovalent or a bivalent ancestral/Omicron BA.1 COVID-19 booster vaccine.

METHODS: At baseline and 1-month post-booster, neutralisation activity and frequencies of receptor binding domain (RBD)-specific MBCs and Spike-specific memory T cells were measured against a panel of variants.

FINDINGS: Both vaccines boosted neutralising antibodies to 5 variants - Wuhan-Hu-1, Delta, BA.1, BA.5 and JN.1, the latter of which had not yet emerged at the time of sample collection. The bivalent vaccine induced a significantly larger increase in nAb against BA.1 and JN.1. Both vaccines boosted RBD-specific MBC responses to Wuhan-Hu-1, Delta, BA.1 and BA.5 variants with a significantly greater increase for BA.1 in the bivalent group. The breadth of MBCs was significantly higher in those who received the bivalent boost and correlated with nAb breadth. Both vaccines significantly boosted Spike-specific T cell responses to the Wuhan-Hu-1 and BA.5 variants, but only the bivalent vaccine boosted BA.1 responses.

INTERPRETATION: These results suggest that the bivalent vaccine confers an advantage against future novel variants due to increased frequency of broadly reactive RBD-specific B cells.

FUNDING: Work supported by NSW Health for the NSW Vaccine, Infection and Immunology Collaborative (VIIM).},
}

Humans
*COVID-19 Vaccines/immunology/administration & dosage
*SARS-CoV-2/immunology
*Memory B Cells/immunology
*COVID-19/immunology/prevention & control
*Antibodies, Viral/immunology
*Antibodies, Neutralizing/immunology
*Immunization, Secondary
*Spike Glycoprotein, Coronavirus/immunology
Adult
Female
Male
Middle Aged
Immunologic Memory
B-Lymphocytes/immunology

@article {pmid39610583,
year = {2024},
author = {Yasin, R and Zafar, G and Rooman Ali Syed, F and Afzal, S and Fatima, M and Rathore, Z and Chughtai, A and Chughtai, A},
title = {CK5/6 Expression in Molecular Subtypes of Invasive Ductal Carcinoma.},
journal = {Cureus},
volume = {16},
number = {10},
pages = {e72608},
pmid = {39610583},
issn = {2168-8184},
abstract = {Background Breast cancer (BC) is the leading cause of cancer-related deaths in women worldwide. There has been a significant increase in the incidence of BC in Pakistan. Family history, older age, obesity, tobacco use, oral contraceptive use, early menarche, and hormonal replacement therapy are among the major risk factors. The most common histological subtype of BC is invasive ductal carcinoma (IDC). Molecular subtypes of BC include mainly Luminal A, Luminal B, human epidermal growth factor receptor 2 (HER-2) enriched, and triple-negative BC subtypes, with the triple-negative subtype having the worst prognosis. CK5/6 serves as a basal keratin biomarker. This aimed to assess the expression of CK5/6 in IDC of the breast belonging to different molecular classes and to compare its expression with traditionally defined prognostic factors for different molecular subtypes. Methodology A cross-sectional, observational study was conducted at the Chughtai Institute of Pathology after approval from the Institutional Review Board (approval number: 1198/IRB/CIP). All cases during a period of six months (April 2023 to September 2023) were sampled using non-probability convenient sampling. All mastectomy samples diagnosed as IDC were included in the study. After standard tissue processing, paraffin tissue blocks and slides were prepared followed by hematoxylin & eosin staining. Hormonal receptors (estrogen receptor, progesterone receptor, HER-2) were assessed for cases to segregate them into molecular subtypes. CK5/6 antibody was then applied and the data were collected on a pre-designed proforma. SPSS version 25.0 (IBM Corp., Armonk, NY, USA) was used for data analysis. Results Of a total of 85 cases, 19 (22.3%) were positive for CK5/6. Of these 19 cases, the majority (68%, p = 0.001) belonged to the triple-negative class of tumors, comprising 13 cases. No case from the Luminal A class showed expression for CK5/6 stain (p = 0.028). Overall, four cases of the Luminal B subtype showed CK5/6 positivity (10.8%, p = 0.022) while two cases of the HER-2-enriched subtype were positive for the stain (33.3%, p > 0.05). These results were analyzed in relation to different prognostic factors. The majority of CK5/6-positive cases showed lymphovascular invasion (42%) and belonged to grade 3 tumors (57.8%). Conclusions The expression of CK5/6 in IDC of the breast is associated with poor prognostic factors such as triple-negative molecular subtypes, high histological grade, lymphovascular invasion, positive nodal status, and high pathological stage.},
}

@article {pmid39605123,
year = {2024},
author = {Noroozpoor, M and Mozdarani, H and Rahbar Parvaneh, R and Lashkari, M},
title = {Evaluation of TP53TG1 and PANDA lncRNAs expression in association with adjuvant chemotherapy response in the peripheral blood of invasive ductal carcinoma patients.},
journal = {Cellular and molecular biology (Noisy-le-Grand, France)},
volume = {70},
number = {10},
pages = {58-63},
doi = {10.14715/cmb/2024.70.10.9},
pmid = {39605123},
issn = {1165-158X},
mesh = {Humans ; Female ; Chemotherapy, Adjuvant ; *RNA, Long Noncoding/genetics/blood ; *Breast Neoplasms/drug therapy/genetics/blood ; Middle Aged ; *Gene Expression Regulation, Neoplastic/drug effects ; Carcinoma, Ductal, Breast/drug therapy/genetics/blood ; Adult ; Biomarkers, Tumor/genetics/blood ; },
abstract = {Breast cancer is the most common malignancy in women. Breast cancer, the second leading cause of cancer deaths, affects 2.1 million women each year and is estimated to have killed 627,000 women worldwide in 2018. Unfortunately, the age of onset of this cancer in our country IRAN is about 10 years lower than the global average and is close to 45 years. Chemotherapy is one of the basic treatments for cancer. Predicting the benefits of chemotherapy is challenging. Studies are now underway to use gene expression tests to pinpoint patients who are most likely to benefit from adjuvant chemotherapy. In the present study, the expression of two long non-coding RNAs TP53TG1 and PANDA in the blood of breast cancer patients before and after receiving chemotherapy compared with this amount in the blood of normal people using Real-Time RT PCR technique to find a meaningful relationship ¬ Compared statistically. Compared to normal samples, the expression level of TP53TG1 in the blood of patients was reduced. Although it was not statistically significant. Its expression also increased after receiving chemotherapy. Compared to normal samples, the expression of PANDA in the blood of patients was increased, which was statistically significant. Also, its expression decreased after receiving chemotherapy. These findings suggest that PANDA and TP53TG1 expression levels may be possible markers associated with tumorigenesis and may also be considered as possible indicators of response to chemotherapy.},
}

Humans
Female
Chemotherapy, Adjuvant
*RNA, Long Noncoding/genetics/blood
*Breast Neoplasms/drug therapy/genetics/blood
Middle Aged
*Gene Expression Regulation, Neoplastic/drug effects
Carcinoma, Ductal, Breast/drug therapy/genetics/blood
Adult
Biomarkers, Tumor/genetics/blood

@article {pmid39593081,
year = {2024},
author = {Trippler, L and Ali, SM and Masoud, MO and Mohammed, ZH and Amour, AK and Suleiman, KR and Ame, SM and Kabole, F and Hattendorf, J and Knopp, S},
title = {Impact of chemical snail control on intermediate host snail populations for urogenital schistosomiasis elimination in Pemba, Tanzania: findings of a 3-year intervention study.},
journal = {Parasites & vectors},
volume = {17},
number = {1},
pages = {489},
pmid = {39593081},
issn = {1756-3305},
support = {PR00P3_179753 / 1//Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung/ ; },
mesh = {Animals ; Tanzania/epidemiology ; *Schistosomiasis haematobia/prevention & control/epidemiology/drug therapy/transmission ; *Schistosoma haematobium/drug effects/physiology ; *Bulinus/parasitology ; Humans ; *Niclosamide/pharmacology ; Snails/parasitology ; Disease Eradication ; Fresh Water/parasitology ; },
abstract = {BACKGROUND: The World Health Organization (WHO) has set the goal of eliminating schistosomiasis as a public health problem globally by 2030 and to interrupt transmission in selected areas. Chemical snail control is one important measure to reduce transmission and achieve local elimination. We aimed to assess the impact of several rounds of chemical snail control on the presence and number of the Schistosoma haematobium intermediate snail host (Bulinus spp.) in water bodies (WBs) on Pemba Island, Tanzania, a setting targeted for elimination of urogenital schistosomiasis.

METHODS: During the three annual intervention periods of the SchistoBreak study implemented in the north of Pemba from 2020 to 2024, malacological surveys were conducted up to four times per period in WBs of hotspot implementation units (IUs). Present freshwater snail species, vegetation, and WB characteristics were recorded. If Bulinus were found, the snails were inspected for Schistosoma infection and snail control with niclosamide was conducted.

RESULTS: Across the three intervention periods, a total of 112 WBs were identified in 8 hotspots IUs. The spatial distribution of WBs with Bulinus per IU was heterogeneous, ranging from 0.0% (0/15) of WBs infested in one IU in 2022 to 80.0% (8/10) of WBs infested in one IU in 2021. Bulinus presence was significantly associated with lower pH values in WBs (odds ratio: 0.2, 95% confidence interval 0.1-0.4). A total of 0.2% (6/2360) of collected Bulinus were shedding Schistosoma cercariae. Following snail control, the number of Bulinus decreased or remained absent in 56.7% (38/67) of visits at WBs when compared with the previous visit in 2021, 54.9% (28/51) in 2022, and 33.3% (32/96) in 2023. In a total of 43.1% (22/55) of initially infested WBs, no Bulinus were found in the survey round conducted a few weeks after the first application of niclosamide. However, 25.4% (14/55) of WBs showed a pattern of recurring Bulinus presence.

CONCLUSIONS: The distribution of WBs containing Bulinus was very heterogeneous. The percentage of Bulinus with patent Schistosoma infection in our study area was extremely low. Repeated niclosamide application reduced the number of Bulinus in WBs, but snails often recurred after one or multiple treatments. While chemical mollusciciding can reduce snail numbers, to fully break the S. haematobium transmission cycle, timely diagnosis and treatment of infected humans, access to clean water, sanitation, and health communication remain of prime importance.

TRIAL REGISTRATION: ISRCTN, ISRCTN91431493. Registered 11 February. 2020, https://www.isrctn.com/ISRCTN91431493.},
}

Animals
Tanzania/epidemiology
*Schistosomiasis haematobia/prevention & control/epidemiology/drug therapy/transmission
*Schistosoma haematobium/drug effects/physiology
*Bulinus/parasitology
Humans
*Niclosamide/pharmacology
Snails/parasitology
Disease Eradication
Fresh Water/parasitology

@article {pmid39578650,
year = {2024},
author = {Berriel Diaz, M and Rohm, M and Herzig, S},
title = {Cancer cachexia: multilevel metabolic dysfunction.},
journal = {Nature metabolism},
volume = {6},
number = {12},
pages = {2222-2245},
pmid = {39578650},
issn = {2522-5812},
support = {949017//EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council)/ ; },
mesh = {Animals ; Humans ; *Cachexia/metabolism/etiology ; *Energy Metabolism ; Metabolic Diseases/etiology/metabolism ; *Neoplasms/complications/metabolism ; },
abstract = {Cancer cachexia is a complex metabolic disorder marked by unintentional body weight loss or 'wasting' of body mass, driven by multiple aetiological factors operating at various levels. It is associated with many malignancies and significantly contributes to cancer-related morbidity and mortality. With emerging recognition of cancer as a systemic disease, there is increasing awareness that understanding and treatment of cancer cachexia may represent a crucial cornerstone for improved management of cancer. Here, we describe the metabolic changes contributing to body wasting in cachexia and explain how the entangled action of both tumour-derived and host-amplified processes induces these metabolic changes. We discuss energy homeostasis and possible ways that the presence of a tumour interferes with or hijacks physiological energy conservation pathways. In that context, we highlight the role played by metabolic cross-talk mechanisms in cachexia pathogenesis. Lastly, we elaborate on the challenges and opportunities in the treatment of this devastating paraneoplastic phenomenon that arise from the complex and multifaceted metabolic cross-talk mechanisms and provide a status on current and emerging therapeutic approaches.},
}

Animals
Humans
*Cachexia/metabolism/etiology
*Energy Metabolism
Metabolic Diseases/etiology/metabolism
*Neoplasms/complications/metabolism

@article {pmid39567714,
year = {2024},
author = {Khan, B and Qahwaji, R and Alfaifi, MS and Athar, T and Khan, A and Mobashir, M and Ashankyty, I and Imtiyaz, K and Alahmadi, A and Rizvi, MMA},
title = {Deciphering molecular landscape of breast cancer progression and insights from functional genomics and therapeutic explorations followed by in vitro validation.},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {28794},
pmid = {39567714},
issn = {2045-2322},
mesh = {Humans ; *Breast Neoplasms/genetics/pathology/drug therapy ; Female ; *Gene Expression Regulation, Neoplastic ; Genomics/methods ; Gene Regulatory Networks ; Disease Progression ; Biomarkers, Tumor/genetics/metabolism ; Carcinoma, Ductal, Breast/genetics/pathology/drug therapy ; Carcinoma, Intraductal, Noninfiltrating/genetics/pathology/drug therapy ; Molecular Docking Simulation ; Gene Expression Profiling ; Prognosis ; Cell Line, Tumor ; },
abstract = {Breast cancer is caused by aberrant breast cells that proliferate and develop into tumors. Tumors have the potential to spread throughout the body and become lethal if ignored. Metastasis is the process by which invasive tumors move to neighboring lymph nodes or other organs. Metastasis can be lethal and perhaps fatal. The objective of our study was to elucidate the molecular mechanisms underlying the transition of Ductal Carcinoma In Situ (DCIS) to Invasive Ductal Carcinoma (IDC), with a particular focus on hub genes and potential therapeutic agents. Using Weighted Gene Co-expression Network Analysis (WGCNA), we built a comprehensive network combining clinical and phenotypic data from both DCIS and IDC. Modules within this network, correlated with specific phenotypic traits, were identified, and hub genes were identified as critical markers. Receiver Operating Characteristic (ROC) analysis assessed their potential as biomarkers, while survival curve analysis gauged their prognostic value. Furthermore, molecular docking predicted interactions with potential therapeutic agents. Ten hub genes-CDK1, KIF11, NUF2, ASPM, CDCA8, CENPF, DTL, EXO1, KIF2C, and ZWINT-emerged as pivotal fibroblast-specific genes potentially involved in the DCIS to IDC transition. These genes exhibited pronounced positive correlations with key pathways like the cell cycle and DNA repair, Molecular docking revealed Fisetin, an anti-inflammatory compound, effectively binding to both CDK1 and DTL underscoring their role in orchestrating cellular transformation. CDK1 and DTL were selected for molecular docking with CDK1 inhibitors, revealing effective binding of Fisetin, an anti-inflammatory compound, to both. Of the identified hub genes, DTL-an E3 ubiquitin ligase linked to the CRL4 complex-plays a central role in cancer progression, impacting tumor growth, invasion, and metastasis, as well as cell cycle regulation and epithelial-mesenchymal transition (EMT). CDK1, another hub gene, is pivotal in cell cycle progression and associated with various biological processes. In conclusion, our study offers insights into the complex mechanisms driving the transition from DCIS to IDC. It underscores the importance of hub genes and their potential interactions with therapeutic agents, particularly Fisetin. By shedding light on the interplay between CDK1 and DTL expression, our findings contribute to understanding the regulatory landscape of invasive ductal carcinoma and pave the way for future investigations and novel therapeutic avenues.},
}

Humans
*Breast Neoplasms/genetics/pathology/drug therapy
Female
*Gene Expression Regulation, Neoplastic
Genomics/methods
Gene Regulatory Networks
Disease Progression
Biomarkers, Tumor/genetics/metabolism
Carcinoma, Ductal, Breast/genetics/pathology/drug therapy
Carcinoma, Intraductal, Noninfiltrating/genetics/pathology/drug therapy
Molecular Docking Simulation
Gene Expression Profiling
Prognosis
Cell Line, Tumor

@article {pmid39560723,
year = {2024},
author = {Cendrowski, J and Wrobel, M and Mazur, M and Jary, B and Maurya, R and Wang, S and Korostynski, M and Dziewulska, A and Rohm, M and Kuropka, P and Pudelko-Malik, N and Mlynarz, P and Dobrzyn, A and Zeigerer, A and Miaczynska, M},
title = {NFκB and JNK pathways mediate metabolic adaptation upon ESCRT-I deficiency.},
journal = {Cellular and molecular life sciences : CMLS},
volume = {81},
number = {1},
pages = {458},
pmid = {39560723},
issn = {1420-9071},
support = {POIR.04.04.00-00-1C54/16-00//Fundacja na rzecz Nauki Polskiej/ ; POIR.04.04.00-00-20CE/16-00//Fundacja na rzecz Nauki Polskiej/ ; },
mesh = {*Endosomal Sorting Complexes Required for Transport/metabolism/genetics ; Humans ; *NF-kappa B/metabolism ; *Glycolysis/genetics ; Lysosomes/metabolism ; MAP Kinase Signaling System ; Mitochondria/metabolism ; Adaptation, Physiological/genetics ; Transcription Factors/metabolism/genetics ; Glucose/metabolism ; DNA-Binding Proteins ; },
abstract = {Endosomal Sorting Complexes Required for Transport (ESCRTs) are crucial for delivering membrane receptors or intracellular organelles for lysosomal degradation which provides the cell with lysosome-derived nutrients. Yet, how ESCRT dysfunction affects cell metabolism remained elusive. To address this, we analyzed transcriptomes of cells lacking TSG101 or VPS28 proteins, components of ESCRT-I subcomplex. ESCRT-I deficiency reduced the expression of genes encoding enzymes involved in oxidation of fatty acids and amino acids, such as branched-chain amino acids, and increased the expression of genes encoding glycolytic enzymes. The changes in metabolic gene expression were associated with Warburg effect-like metabolic reprogramming that included intracellular accumulation of lipids, increased glucose/glutamine consumption and lactate production. Moreover, depletion of ESCRT-I components led to expansion of the ER and accumulation of small mitochondria, most of which retained proper potential and performed ATP-linked respiration. Mechanistically, the observed transcriptional reprogramming towards glycolysis in the absence of ESCRT-I occurred due to activation of the canonical NFκB and JNK signaling pathways and at least in part by perturbed lysosomal degradation. We propose that by activating the stress signaling pathways ESCRT-I deficiency leads to preferential usage of extracellular nutrients, like glucose and glutamine, for energy production instead of lysosome-derived nutrients, such as fatty acids and branched-chain amino acids.},
}

*Endosomal Sorting Complexes Required for Transport/metabolism/genetics
Humans
*NF-kappa B/metabolism
*Glycolysis/genetics
Lysosomes/metabolism
MAP Kinase Signaling System
Mitochondria/metabolism
Adaptation, Physiological/genetics
Transcription Factors/metabolism/genetics
Glucose/metabolism
DNA-Binding Proteins

@article {pmid39557919,
year = {2024},
author = {Rusak, A and Kątnik, E and Górnicki, T and Schmuttermaier, C and Kujawa, K and Piotrowska, A and Ratajczak-Wielgomas, K and Kmiecik, A and Wojnar, A and Dzięgiel, P and Kzhyshkowska, J},
title = {New insights into the role of the CHI3L2 protein in invasive ductal breast carcinoma.},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {28529},
pmid = {39557919},
issn = {2045-2322},
support = {2021/05/X/NZ2/01698//National Science Center, Poland (NCN)/ ; },
mesh = {Humans ; Female ; *Carcinoma, Ductal, Breast/metabolism/pathology/genetics ; *Breast Neoplasms/metabolism/pathology/genetics ; Middle Aged ; STAT3 Transcription Factor/metabolism ; Cell Line, Tumor ; Phosphorylation ; Chitinase-3-Like Protein 1/metabolism/genetics ; Gene Expression Regulation, Neoplastic ; Adult ; Macrophages/metabolism ; Aged ; MAP Kinase Signaling System ; Chitinases ; },
abstract = {Chitinase-like proteins have multiple biological functions that promote tumor growth, angiogenesis and metastasis. Expression of CHI3L2, which is similar in structure to CHI3L1, is detected in glioma cells and tumor-associated macrophages (TAMs) in glioma and breast cancer. However, its exact role remains unclear. We analyzed the expression of CHI3L2 in 74 invasive ductal breast carcinoma (IDC) tumors, breast cancer and macrophages cell cultures using immunohistochemistry, immunofluorescence, Western blot and PCR methods. Clinicopathologic data were included in the analysis. The results obtained show that CHI3L2 expression decreases with increasing degree of tumor grade and negative status of estrogen (ER) and progesterone receptors (PR). Furthermore, CHI3L2 is significantly and positively correlated with phosphorylation of STAT-3 and ERK1/2 signaling pathways, but negatively correlated with macrophage infiltration. CHI3L2 is expressed both in the cytoplasm of cancer cells and in macrophages and may regulate STAT-3 and ERK1/2 phosphorylation in breast cancer cell lines. Analysis of the clinicopathologic data revealed that CHI3L2 levels had no effect on patient survival. CHI3L2 expression may be specific for cancer cells in IDC and involved in cross-talk with the tumor microenvironment. Our study has shown that IDC cancer cells express the CHI3L2 protein, possibly indicating a novel function of this protein.},
}

Humans
Female
*Carcinoma, Ductal, Breast/metabolism/pathology/genetics
*Breast Neoplasms/metabolism/pathology/genetics
Middle Aged
STAT3 Transcription Factor/metabolism
Cell Line, Tumor
Phosphorylation
Chitinase-3-Like Protein 1/metabolism/genetics
Gene Expression Regulation, Neoplastic
Adult
Macrophages/metabolism
Aged
MAP Kinase Signaling System
Chitinases

@article {pmid39541956,
year = {2025},
author = {Abdelwahab, RM and Aghazadeh Mohandesi, N and Sturgis, CD and Alavi, A},
title = {Squamous Metaplasia of Lactiferous Ducts (Zuska's Disease) of the Breast: Clinical and Histopathologic Manifestations.},
journal = {Dermatology (Basel, Switzerland)},
volume = {241},
number = {2},
pages = {210-215},
doi = {10.1159/000542622},
pmid = {39541956},
issn = {1421-9832},
mesh = {Humans ; Female ; Middle Aged ; Adult ; Metaplasia/pathology ; Retrospective Studies ; Aged ; *Breast Diseases/pathology ; Aged, 80 and over ; Smoking/adverse effects ; *Breast/pathology ; *Mammary Glands, Human/pathology ; },
abstract = {INTRODUCTION: Squamous metaplasia of lactiferous duct (SMOLD), also known as Zuska's disease, is an uncommon, recurrent inflammatory fistulizing disease of the breast that strongly correlates with smoking in premenopausal patients. Clinical and imaging findings may overlap with other breast conditions. SMOLD is well recognized by breast pathologists; however, the dermatology literature on this condition remains scarce.

METHODS: In this retrospective study, we reviewed 29 patients with SMOLD diagnosed at Mayo Clinic.

RESULTS: The mean age of the patient cohort is 50.3 with a range of 30 to 81 years. One patient (3.7%) had hidradenitis suppurativa of the retroareolar area. Patient smoking history demonstrated prior/current smokers of 37.9% (11/29), lifetime nonsmokers with significant secondhand exposure 6.9% (2/29), and unknown smoking status 3.4% (1/29). One patient had a personal history of invasive ductal carcinoma, and 10.3% (3/29) had a history of breast cancer in a first-degree relative. The clinical presentation of the patient cohort includes areolar papules, nodules, and draining tract/fistula 13.7% (4/29); pustular cyst/abscess on the breast 13.7% (4/29); breast mass 3.4% (1/29); pain breast discomfort/pain 13.7% (4/29); nipple retraction 3.4% (1/29); and asymptomatic with nipple calcifications on mammogram 3.4% (1/29). A total of 77.8% (7/9) of patients with bacterial cultures demonstrated polymicrobial growth. Overall, 37.9% (11/29) of patients received at least one round of antibiotic therapy. In total, 27.6% (8/29) of patients underwent invasive intervention. Staphylococcus, Streptococcus, and Cutibacterium species were the most frequent causes of infection in our patient cohort.

CONCLUSIONS: We confirm previous findings of strong association between SMOLD and current/former smoking status and a potential, novel correlation between extensive secondhand exposure and SMOLD development. While both medical and surgical interventions are employed in patient management, many patients ultimately require complete excision of the involved duct(s). Dermatologists should consider SMOLD in the differential diagnosis of patients presenting with breast abscess, fistulizing tracts with mass, and breast pain.},
}

Humans
Female
Middle Aged
Adult
Metaplasia/pathology
Retrospective Studies
Aged
*Breast Diseases/pathology
Aged, 80 and over
Smoking/adverse effects
*Breast/pathology
*Mammary Glands, Human/pathology

@article {pmid39520846,
year = {2024},
author = {Turk, A and Metin, TO and Kuloglu, T and Yilmaz, M and Artas, G and Ozercan, IH and Hancer, S},
title = {Isthmin-1 and spexin as promising novel biomarker candidates for invasive ductal breast carcinoma.},
journal = {Tissue & cell},
volume = {91},
number = {},
pages = {102601},
doi = {10.1016/j.tice.2024.102601},
pmid = {39520846},
issn = {1532-3072},
mesh = {Humans ; Female ; *Carcinoma, Ductal, Breast/metabolism/pathology ; *Biomarkers, Tumor/metabolism ; *Breast Neoplasms/metabolism/pathology ; Middle Aged ; *Peptide Hormones/metabolism ; Adult ; Aged ; Blood Proteins/metabolism ; Neoplasm Invasiveness ; },
abstract = {INTRODUCTION: Breast cancer is one of the most common malignant tumors and a leading cause of cancer-related death in women. Research is focusing on biomarkers linked to breast cancer, particularly two novel proteins: isthmin-1 (ISM-1) and spexin (SPX), which require further investigation.

MATERIAL AND METHODS: The study involved 20 healthy controls and 60 patients with invasive ductal carcinoma, categorized into three groups: Grade I (n=20), Grade II (n=20), and Grade III (n=20). Levels of ISM-1 and SPX in tissue were analyzed using immunohistochemistry alongside the clinicopathologic data of patients.

RESULTS: There were no statistically significant differences in age, menopausal status, ER, PR, and Cerb-B2 values across grades (p>0.05). Tumor diameters showed a significant increase in Grade I compared to Grade II (p<0.05), while no significant difference was noted between Grade II and Grade III, although diameters were larger in Grade III compared to Grade I (p<0.05). Notably, ISM-1 immunoreactivity decreased, and SPX immunoreactivity increased significantly across all grades compared to normal tissue (p<0.05), with no significant differences between tumor grades for these markers (p>0.05).

CONCLUSIONS: This study presents new findings on ISM-1 and SPX expression in invasive ductal breast carcinoma. The decrease in ISM-1 and increase in SPX suggest a need for further research into the relationship between adipokines and tumor development in breast cancer.},
}

Humans
Female
*Carcinoma, Ductal, Breast/metabolism/pathology
*Biomarkers, Tumor/metabolism
*Breast Neoplasms/metabolism/pathology
Middle Aged
*Peptide Hormones/metabolism
Adult
Aged
Blood Proteins/metabolism
Neoplasm Invasiveness

@article {pmid39519098,
year = {2024},
author = {Kim, YJ and Nanda, SS and Jiang, F and Pyo, SY and Han, JY and Koh, SS and Kang, TH},
title = {Pancreatic Adenocarcinoma Up-Regulated Factor (PAUF) Transforms Human Monocytes into Alternative M2 Macrophages with Immunosuppressive Action.},
journal = {International journal of molecular sciences},
volume = {25},
number = {21},
pages = {},
pmid = {39519098},
issn = {1422-0067},
mesh = {Humans ; *Pancreatic Neoplasms/pathology/metabolism/immunology ; *Monocytes/metabolism/immunology ; *Cell Differentiation ; *Macrophages/metabolism/immunology ; *Tumor Microenvironment/immunology ; Toll-Like Receptor 2/metabolism ; Tumor-Associated Macrophages/metabolism/immunology ; Cell Proliferation ; Adenocarcinoma/pathology/metabolism/immunology ; Cell Line, Tumor ; Intercellular Signaling Peptides and Proteins ; },
abstract = {Tumor-associated macrophages (TAMs) in the tumor microenvironment (TME) promote immune evasion, cancer cell proliferation, and metastasis. Ongoing research is focused on finding ways to prevent tumor growth by inhibiting TAM polarization, which has shown a correlation with unfavorable prognosis in clinical studies. Pancreatic adenocarcinoma up-regulated factor (PAUF) is a protein secreted from pancreatic cancer (PC) and acts as a TME modulator that affects the TME by acting on not only cancer cells but also stromal cells and immune cells. Tumor cells can evade the immune system by PAUF binding to Toll-like receptor (TLR) in monocytes, as this research shows. In this study, the examination centered around the recruitment of human monocytes by PAUF and the subsequent differentiation into macrophages. In an in vitro chemotaxis assay, PAUF induced chemotactic migration of TLR2-mediated monocytes. In addition, PAUF induced differentiation of monocytes into M2 macrophages, which was verified based on expressing surface markers and cytokines and morphological analysis. The inhibition of T cell proliferation and function was observed in differentiated M2 macrophages. To conclude, these findings indicate that PAUF functions as a promoter of cancer progression by regulating the recruitment and differentiation of macrophages within TMEs, ultimately causing immunosuppression.},
}

Humans
*Pancreatic Neoplasms/pathology/metabolism/immunology
*Monocytes/metabolism/immunology
*Cell Differentiation
*Macrophages/metabolism/immunology
*Tumor Microenvironment/immunology
Toll-Like Receptor 2/metabolism
Tumor-Associated Macrophages/metabolism/immunology
Cell Proliferation
Adenocarcinoma/pathology/metabolism/immunology
Cell Line, Tumor
Intercellular Signaling Peptides and Proteins

@article {pmid39519012,
year = {2024},
author = {Newman, NA and Burke, MA},
title = {Dilated Cardiomyopathy: A Genetic Journey from Past to Future.},
journal = {International journal of molecular sciences},
volume = {25},
number = {21},
pages = {},
pmid = {39519012},
issn = {1422-0067},
mesh = {Humans ; *Cardiomyopathy, Dilated/genetics ; *Genetic Predisposition to Disease ; Genetic Testing ; },
abstract = {Dilated cardiomyopathy (DCM) is characterized by reduced systolic function and cardiac dilation. Cases without an identified secondary cause are classified as idiopathic dilated cardiomyopathy (IDC). Over the last 35 years, many cases of IDC have increasingly been recognized to be genetic in etiology with a core set of definitively causal genes in up to 40% of cases. While over 200 genes have been associated with DCM, the evidence supporting pathogenicity for most remains limited. Further, rapid advances in sequencing and bioinformatics have recently revealed a complex genetic spectrum ranging from monogenic to polygenic in DCM. These advances have also led to the discovery of causal and modifier genetic variants in secondary forms of DCM (e.g., alcohol-induced cardiomyopathy). Current guidelines recommend genetic counseling and screening, as well as endorsing a handful of genotype-specific therapies (e.g., device placement in LMNA cardiomyopathy). The future of genetics in DCM will likely involve polygenic risk scores, direct-to-consumer testing, and pharmacogenetics, requiring providers to have a thorough understanding of this rapidly developing field. Herein we outline three decades of genetics in DCM, summarize recent advances, and project possible future avenues for the field.},
}

Humans
*Cardiomyopathy, Dilated/genetics
*Genetic Predisposition to Disease
Genetic Testing

@article {pmid39513960,
year = {2025},
author = {Huang, H and Couch, RE and Karam, R and Hu, C and Boddicker, N and Polley, EC and Na, J and Ambrosone, CB and Yao, S and Trentham-Dietz, A and Eliassen, AH and Penney, K and Brantley, K and Bodelon, C and Teras, LR and Hodge, J and Patel, A and Haiman, CA and John, EM and Neuhausen, SL and Martinez, E and Lacey, JV and O'Brien, KM and Sandler, DP and Weinberg, CR and Palmer, JR and Bertrand, KA and Vachon, CM and Olson, JE and Ruddy, KE and Anton-Culver, H and Ziogas, A and Goldgar, DE and Nathanson, KL and Domchek, SM and Weitzel, JN and Kraft, P and Dolinsky, JS and Pesaran, T and Richardson, ME and Yadav, S and Couch, FJ},
title = {Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.},
journal = {Clinical cancer research : an official journal of the American Association for Cancer Research},
volume = {31},
number = {1},
pages = {130-138},
pmid = {39513960},
issn = {1557-3265},
support = {R01 CA225662/CA/NCI NIH HHS/United States ; R35CA253187//National Cancer Institute (NCI)/ ; //Breast Cancer Research Foundation (BCRF)/ ; P50CA116201//National Cancer Institute (NCI)/ ; K12 CA090628/CA/NCI NIH HHS/United States ; P50 CA116201/CA/NCI NIH HHS/United States ; R01CA225662//National Cancer Institute (NCI)/ ; P30 CA062203/CA/NCI NIH HHS/United States ; K12CA090628//National Cancer Institute (NCI)/ ; R35 CA253187/CA/NCI NIH HHS/United States ; T32 CA009001/CA/NCI NIH HHS/United States ; },
mesh = {Humans ; Female ; *Genetic Predisposition to Disease ; *Breast Neoplasms/genetics/pathology/epidemiology ; *Carcinoma, Intraductal, Noninfiltrating/genetics/pathology/epidemiology ; Middle Aged ; Adult ; *Germ-Line Mutation ; Aged ; Carcinoma, Ductal, Breast/genetics/pathology/epidemiology ; },
abstract = {PURPOSE: To determine the relationship between germline pathogenic variants (PV) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS).

EXPERIMENTAL DESIGN: Germline PV frequencies in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, and RAD51D) were compared between DCIS cases and unaffected controls and between DCIS and invasive ductal breast cancer (IDC) cases from a clinical testing cohort (n = 9,887), a population-based cohort (n = 3,876), and the UK Biobank (n = 2,421). The risk of contralateral breast cancer (CBC) for DCIS cases with PV was estimated in the population-based cohort.

RESULTS: Germline PV were observed in 6.5% and 4.6% of women with DCIS in the clinical testing and population-based cohorts, respectively. BRCA1, BRCA2, and PALB2 PV frequencies were significantly lower among women with DCIS than those with IDC (clinical cohort: 2.8% vs. 5.7%; population-based cohort: 1.7% vs. 3.7%), whereas the PV frequencies for ATM and CHEK2 were similar. ATM, BRCA1, BRCA2, CHEK2, and PALB2 PV were significantly associated with an increased risk of DCIS (OR > 2.0), but only BRCA2 PV were associated with high risk (OR > 4) in both cohorts. The cumulative incidence of CBC among carriers of PV in high-penetrance genes with DCIS was 23% over 15 years.

CONCLUSIONS: The enrichment of PV in ATM, BRCA1, BRCA2, CHEK2, and PALB2 among women with DCIS suggests that multigene panel testing may be appropriate for women with DCIS. Elevated risks of CBC in carriers of PV in high-penetrance genes with DCIS confirmed the utility of testing for surgical decision-making.},
}

Humans
Female
*Genetic Predisposition to Disease
*Breast Neoplasms/genetics/pathology/epidemiology
*Carcinoma, Intraductal, Noninfiltrating/genetics/pathology/epidemiology
Middle Aged
Adult
*Germ-Line Mutation
Aged
Carcinoma, Ductal, Breast/genetics/pathology/epidemiology

@article {pmid39512981,
year = {2024},
author = {Eshaqi, MJ and Al Shamsi, SA and Al Saidi, AM and Mahesh, S},
title = {Clinical Insights Into Ductal Carcinoma In Situ in Males: A Report of Two Cases From the Sultanate of Oman.},
journal = {Cureus},
volume = {16},
number = {10},
pages = {e71071},
pmid = {39512981},
issn = {2168-8184},
abstract = {Breast cancer is a disease that predominantly affects the female population; however, rarely it can manifest in males, yet its etiology remains poorly elucidated. The scarcity of literature reviews and case reports done on male breast cancer in comparison to the female counterpart makes it difficult to understand the risk factors, treatment options, and extension of the disease. Moreover, high-grade ductal carcinoma in situ (DCIS) is exceptionally uncommon among male patients. The prognosis for male patients diagnosed with DCIS is similar to that of females at the same disease stage making early recognition and diagnosis significant. However, more efforts are being made to understand the clinical presentation, increase awareness, and acknowledge the etiology of this disease. This study addresses this gap by presenting two distinctive cases of invasive ductal carcinoma in males from the Sultanate of Oman. The aim of this study is to contribute to the growing efforts in comprehending the unclear landscape of male breast cancer, fostering awareness, and advancing knowledge of its etiology.},
}

@article {pmid39506855,
year = {2024},
author = {Kook, Y and Lee, YJ and Chu, C and Jang, JS and Baek, SH and Bae, SJ and Cha, YJ and Gong, G and Jeong, J and Lee, SB and Ahn, SG},
title = {Differentiating HER2-low and HER2-zero tumors with 21-gene multigene assay in 2,295 h + HER2- breast cancer: a retrospective analysis.},
journal = {Breast cancer research : BCR},
volume = {26},
number = {1},
pages = {154},
pmid = {39506855},
issn = {1465-542X},
support = {2021M3H9A2096954//National Research Foundation of Korea/ ; RS-2024-00343001//Korean government/ ; },
mesh = {Humans ; Female ; *Breast Neoplasms/genetics/pathology/mortality/drug therapy ; *Receptor, ErbB-2/genetics/metabolism ; Retrospective Studies ; Middle Aged ; *Biomarkers, Tumor/genetics ; Adult ; Aged ; Gene Expression Profiling ; Immunohistochemistry ; Prognosis ; },
abstract = {BACKGROUND: HER2-positivity is an essential marker for therapeutic decisions, while HER2 expression is heterogenous. In recent years, there has been increasing recognition of a subgroup of breast cancer patients who have low levels of HER2 expression, also known as HER2-low because trastuzumab deruxtecan offers clinical benefit for patients with HER2-low metastatic breast cancer. Despite the growing interest in HER2-low breast cancer, there is limited research on how multigene assays can help differentiate between HER2-low and HER2-negative breast cancer. Among HR + HER2- breast cancer, we compared genomic characteristics between HER2-low and HER2-zero using the 21-gene assay.

METHODS: A retrospective review of clinical records was performed in 2,295 patients who underwent Oncotype DX[®] test in two hospitals between 2013 and 2020. Patients were classified into two groups as the HER2-zero and HER2-low based on HER2 immunohistochemistry. In cases with HER2 2+, no amplification of HER2 gene was confirmed by silver in situ hybridization. High genomic risk was defined as cases with 21-gene recurrence score (RS) > 25. Multivariable binary logistic-regression analysis was performed.

RESULTS: Of these, 944 (41.1%) patients were assigned to the HER2-zero group, while 1351 (58.9%) patients were assigned to the HER2-low group. The average Recurrence Score (RS) was found to be 17.802 in the HER2-zero breast cancer group and 18.503 in the HER2-low group, respectively (p-value < 0.005). When comparing the proportion of high RS between the two groups, the HER2-zero group had a high RS rate of 12.4% (117 out of 944), while the HER2-low group had a high RS rate of 17.0% (230 out of 1351) (p = 0.002). The HER2 score identified by qRT-PCR was 8.912 in the HER2-zero group and 9.337 in the HER2-low group (p < 0.005). In multivariable analysis, HER2-low status was found to be an independent factor for high RS, with an odds ratio of 1.517 (1.172-1.964), independent of ER, PR, and Ki67. Within the subgroup of patients with invasive ductal carcinoma, the high RS rates were 19% in the HER2-low group and 14% in the HER2-zero group. However, when considering all patients, there were no significant differences observed in recurrence-free survival and overall survival between the HER2-low and HER2-zero groups.

CONCLUSION: Within HR + HER2- breast cancer, HER2-low tumors are associated with high RS, especially for histologically invasive ductal carcinoma. A prognostic influence of HER2-low expression among HR + HER2- breast cancer remains as an area that requires further study.},
}

Humans
Female
*Breast Neoplasms/genetics/pathology/mortality/drug therapy
*Receptor, ErbB-2/genetics/metabolism
Retrospective Studies
Middle Aged
*Biomarkers, Tumor/genetics
Adult
Aged
Gene Expression Profiling
Immunohistochemistry
Prognosis

@article {pmid39505971,
year = {2024},
author = {Olbromski, M and Mrozowska, M and Smolarz, B and Romanowicz, H and Rusak, A and Piotrowska, A},
title = {ERα status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B.},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {26935},
pmid = {39505971},
issn = {2045-2322},
mesh = {Humans ; Female ; *Estrogen Receptor alpha/metabolism/genetics ; *Breast Neoplasms/pathology/metabolism/genetics ; *Histone Acetyltransferases/metabolism/genetics ; *Carcinoma, Ductal, Breast/genetics/metabolism/pathology ; Cell Line, Tumor ; Middle Aged ; Gene Expression Regulation, Neoplastic ; Adult ; Histone Deacetylases/metabolism/genetics ; MCF-7 Cells ; Aged ; Lysine/metabolism ; },
abstract = {Breast cancer (BC) is the leading cause of death among cancer patients worldwide. In 2020, almost 12% of all cancers were diagnosed with BC. Therefore, it is important to search for new potential markers of cancer progression that could be helpful in cancer diagnostics and successful anti-cancer therapies. In this study, we investigated the potential role of the lysine acetyltransferases KAT6A and KAT6B in the outcome of patients with invasive breast carcinoma. The expression profiles of KAT6A/B in 495 cases of IDC and 38 cases of mastopathy (FBD) were examined by immunohistochemistry. KAT6A/B expression was also determined in the breast cancer cell lines MCF-7, BT-474, SK-BR-3, T47D, MDA-MB-231, and MDA-MB-231/BO2, as well as in the human epithelial mammary gland cell line hTERT-HME1 - ME16C, both at the mRNA and protein level. Statistical analysis of the results showed that the nuclear expression of KAT6A/B correlates with the estrogen receptor status: KAT6ANUC vs. ER r = 0.2373 and KAT6BNUC vs. ER r = 0.1496. Statistical analysis clearly showed that KAT6A cytoplasmic and nuclear expression levels were significantly higher in IDC samples than in FBD samples (IRS 5.297 ± 2.884 vs. 2.004 ± 1.072, p < 0.0001; IRS 5.133 ± 4.221 vs. 0.1665 ± 0.4024, p < 0.0001, respectively). Moreover, we noticed strong correlations between ER and PR status and the nuclear expression of KAT6A and KAT6B (nucKAT6A vs. ER, p = 0.0048; nucKAT6A vs. PR p = 0.0416; nucKAT6B vs. ER p = 0.0306; nucKAT6B vs. PR p = 0.0213). Significantly higher KAT6A and KAT6B expression was found in the ER-positive cell lines T-47D and BT-474, whereas significantly lower expression was observed in the triple-negative cell lines MDA-MB-231 and MDA-MB-231/BO2. The outcomes of small interfering RNA (siRNA)-mediated suppression of KAT6A/B genes revealed that within estrogen receptor (ER) positive and negative cell lines, MCF-7 and MDA-MB-231, attenuation of KAT6A led to concurrent attenuation of KAT6A, whereas suppression of KAT6B resulted in simultaneous attenuation of KAT6A. Furthermore, inhibition of KAT6A/B genes resulted in a reduction in estrogen receptor (ER) mRNA and protein expression levels in MCF-7 and MDA-MMB-231 cell lines. Based on our findings, the lysine acetyltransferases KAT6A and KAT6B may be involved in the progression of invasive ductal breast cancer. Further research on other types of cancer may show that KAT6A and KAT6B could serve as diagnostic and prognostic markers for these types of malignancies.},
}

Humans
Female
*Estrogen Receptor alpha/metabolism/genetics
*Breast Neoplasms/pathology/metabolism/genetics
*Histone Acetyltransferases/metabolism/genetics
*Carcinoma, Ductal, Breast/genetics/metabolism/pathology
Cell Line, Tumor
Middle Aged
Gene Expression Regulation, Neoplastic
Adult
Histone Deacetylases/metabolism/genetics
MCF-7 Cells
Aged
Lysine/metabolism

@article {pmid39500528,
year = {2024},
author = {Degavre, C and Lepez, A and Ibanez, S and François, C and Głowacka, K and Guilbaud, C and Laloux-Morris, F and Esfahani, H and Brusa, D and Bouzin, C and Feron, O},
title = {In situ endoscopic photodynamic therapy combined with immature DC vaccination induces a robust T cell response against peritoneal carcinomatosis.},
journal = {Journal for immunotherapy of cancer},
volume = {12},
number = {11},
pages = {},
pmid = {39500528},
issn = {2051-1426},
mesh = {*Photochemotherapy/methods ; Animals ; Mice ; *Peritoneal Neoplasms/immunology/therapy/secondary ; *Dendritic Cells/immunology ; Humans ; Female ; Cancer Vaccines/therapeutic use/pharmacology/immunology ; Photosensitizing Agents/pharmacology/therapeutic use ; Cell Line, Tumor ; Vaccination/methods ; },
abstract = {BACKGROUND: Immunogenic cell death (ICD) and ferroptosis have recently emerged as key factors in the anticancer immune response. Among the treatments able to induce ICD and the associated release of danger signals is photodynamic therapy (PDT). Ferroptosis for its part results from lipid peroxidation and is induced by CD8[+] T cells to kill nearby cancer cells on IFN-γ production. We aimed to combine the two concepts, that is, to evaluate whether the strong pro-oxidant effects of PDT may promote ferroptosis and antigen release and to develop a procedure for in situ PDT to prepare the soil for highly endocytotic immature dendritic cell (iDC) adoptive transfer. This approach was implemented for managing peritoneal carcinomatosis, a lesion often associated with poor outcomes.

METHODS: We used three-dimensional (3D) heterotypic spheroids made of cancer cells, exposed them to a white light-activated OR141 photosensitizer (PS), and subsequently complexified them by adding iDC and naive lymphocytes. We next used a model of mouse peritoneal carcinomatosis and administered PDT using laparoscopy to locally induce photoactivation using the endoscope light. The immune response following adoptive transfer of iDC was tracked both in vivo and ex vivo using isolated immune cells from in situ vaccinated mice.

RESULTS: Cancer cells undergoing PDT-induced cell death significantly increased ICD markers and the infiltration of iDCs in spheroids, relying on ferroptosis. These actions induced the sequential activation of CD8[+] and CD4[+] T cells as revealed by a significant spheroid 3D structure deterioration and, remarkably, were not recapitulated by conventional ferroptosis inducer RSL3. Using LED light from an endoscope for in situ photoactivation of PS enabled us to apply the vaccination modality in mice with peritoneal tumors. Consecutive intraperitoneal injection of iDCs resulted in delayed tumor growth, increased survival rates, and prevented tumor relapse on rechallenge. CD8[+] T cell response was supported by depletion experiments, nodal detection of early activated T cells, and ex vivo T cell-induced cytotoxicity toward spheroids.

CONCLUSIONS: The combination of in situ PDT locally delivered by an endoscope light and iDC administration induces a durable memory immune response against peritoneal carcinomatosis thereby opening new perspectives for the treatment of a life-threatening condition.},
}

*Photochemotherapy/methods
Animals
Mice
*Peritoneal Neoplasms/immunology/therapy/secondary
*Dendritic Cells/immunology
Humans
Female
Cancer Vaccines/therapeutic use/pharmacology/immunology
Photosensitizing Agents/pharmacology/therapeutic use
Cell Line, Tumor
Vaccination/methods

@article {pmid39477690,
year = {2025},
author = {Borger, J and Zweck, E and Moos, C and Horn, P and Voß, F and Schultheiss, HP and Møller, JE and Boeken, U and Aubin, H and Lichtenberg, A and Kelm, M and Roden, M and Polzin, A and Westenfeld, R and Szendroedi, J and Scheiber, D},
title = {Myocardial inflammation is associated with impaired mitochondrial oxidative capacity in ischaemic cardiomyopathy.},
journal = {ESC heart failure},
volume = {12},
number = {2},
pages = {1246-1255},
pmid = {39477690},
issn = {2055-5822},
support = {236177352//German Research Foundation/ ; 527448911//German Research Foundation/ ; 493659010//German Research Foundation/ ; //Medical Faculty, Heinrich-Heine-University/ ; //German Heart Research Foundation/ ; //German Center for Diabetes Research/ ; //German Diabetes Center/ ; //Federal Ministry of Health/ ; //Ministry of Innovation, Science, Research and Technology of the state North-Rhine Westphalia/ ; },
mesh = {Humans ; Male ; Female ; Middle Aged ; *Myocardial Ischemia/metabolism/complications ; *Mitochondria, Heart/metabolism ; *Cardiomyopathy, Dilated/metabolism ; *Oxidative Stress/physiology ; *Myocarditis/metabolism/etiology ; Aged ; Inflammation/metabolism ; Energy Metabolism ; },
abstract = {AIMS: Myocardial inflammation and impaired mitochondrial oxidative capacity are hallmarks of heart failure (HF) pathophysiology. The extent of myocardial inflammation in patients suffering from ischaemic cardiomyopathy (ICM) or dilated cardiomyopathy (DCM) and its association with mitochondrial energy metabolism are unknown. We aimed at establishing a relevant role of cardiac inflammation in the impairment of mitochondrial energy production in advanced ischaemic and non-ischaemic HF.

METHODS: We included 81 patients with stage D HF (ICM, n = 44; DCM, n = 37) undergoing left ventricular assist device implantation (n = 59) or heart transplantation (n = 22) and obtained left ventricular tissue samples during open heart surgery. We quantified mitochondrial oxidative capacity, citrate synthase activity (CSA) and fibrosis and lymphocytic infiltration. We considered infiltration of >14 CD3[+] cells/mm[2] relevant inflammation.

RESULTS: Patients with ICM or DCM did not differ regarding age (61.5 ± 5.7 vs. 56.5 ± 12.7 years, P = 0.164), sex (86% vs. 84% male, P = 0.725), type 2 diabetes mellitus (34% vs. 18%, P = 0.126) or chronic kidney disease (8% vs. 11%, P = 0.994). ICM exhibited oxidative capacity reduced by 23% compared to DCM (108.6 ± 41.4 vs. 141.9 ± 59.9 pmol/(s*mg), P = 0.006). Maximum production of reactive oxygen species was not significantly different between ICM and DCM (0.59 ± 0.28 vs. 0.69 ± 0.36 pmol/(s*ml), P = 0.196). Mitochondrial content, detected by CSA, was lower in ICM (359.6 ± 164.1 vs. 503.0 ± 198.5 nmol/min/mg protein, P = 0.002). Notably, relevant inflammation was more common in ICM (27% vs. 6%, P = 0.024), and the absolute number of infiltrating leucocytes correlated with lower oxidative capacity (r = -0.296, P = 0.019). Fibrosis was more prevalent in ICM (20.9 ± 21.2 vs. 7.2 ± 5.6% of area, P = 0.002), but not associated with oxidative capacity (r = -0.13, P = 0.327).

CONCLUSIONS: More than every fourth ICM patient with advanced HF displays myocardial inflammation in the range of inflammatory cardiomyopathy associated with reduced mitochondrial oxidative capacity. Future studies may evaluate inflammation in ICM at earlier stages in standardised fashion to explore the therapeutic potential of immunosuppression to influence trajectories of HF in ICM.},
}

Humans
Male
Female
Middle Aged
*Myocardial Ischemia/metabolism/complications
*Mitochondria, Heart/metabolism
*Cardiomyopathy, Dilated/metabolism
*Oxidative Stress/physiology
*Myocarditis/metabolism/etiology
Aged
Inflammation/metabolism
Energy Metabolism

@article {pmid39445545,
year = {2025},
author = {Wu, B and Gao, A and He, B and Chen, Y and Kong, X and Wen, F and Gao, H},
title = {RNA-seq analysis of mitochondria-related genes regulated by AMPK in the human trophoblast cell line BeWo.},
journal = {Animal models and experimental medicine},
volume = {8},
number = {4},
pages = {649-661},
pmid = {39445545},
issn = {2576-2095},
support = {R16 HD116702/HD/NICHD NIH HHS/United States ; RCMI/IDC Award U54MD007597//National Center on Minority Health and Health Disparities/ ; R16HD116702//National Institute of Child Health and Human Development/ ; U54 MD007597/MD/NIMHD NIH HHS/United States ; R03HD095417//National Institute of Child Health and Human Development/ ; Bridge Fund/Pilot Study Award//Dean's Office Howard University College of Medicine/ ; },
mesh = {Humans ; *Trophoblasts/metabolism ; *Mitochondria/genetics/metabolism ; *AMP-Activated Protein Kinases/metabolism/genetics ; RNA-Seq ; Adenosine Triphosphate/metabolism ; Cell Line ; Gene Expression Regulation ; Protein Interaction Maps ; Signal Transduction ; Pregnancy ; Female ; Gene Expression Profiling ; },
abstract = {BACKGROUND: How AMP activated protein kinase (AMPK) signaling regulates mitochondrial functions and mitophagy in human trophoblast cells remains unclear. This study was designed to investigate potential players mediating the regulation of AMPK on mitochondrial functions and mitophagy by next generation RNA-seq.

METHODS: We compared ATP production in protein kinase AMP-activated catalytic subunit alpha 1/2 (PRKAA1/2) knockdown (AKD) and control BeWo cells using the Seahorse real-time ATP rate test, then analyzed gene expression profiling by RNA-seq. Differentially expressed genes (DEG) were examined by Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. Then protein-protein interactions (PPI) among mitochondria related genes were further analyzed using Metascape and Ingenuity Pathway Analysis (IPA) software.

RESULTS: Both mitochondrial and glycolytic ATP production in AKD cells were lower than in the control BeWo cells (CT), with a greater reduction of mitochondrial ATP production. A total of 1092 DEGs were identified, with 405 upregulated and 687 downregulated. GO analysis identified 60 genes associated with the term 'mitochondrion' in the cellular component domain. PPI analysis identified three clusters of mitochondria related genes, including aldo-keto reductase family 1 member B10 and B15 (AKR1B10, AKR1B15), alanyl-tRNA synthetase 1 (AARS1), mitochondrial ribosomal protein S6 (MRPS6), mitochondrial calcium uniporter dominant negative subunit beta (MCUB) and dihydrolipoamide branched chain transacylase E2 (DBT).

CONCLUSIONS: In summary, this study identified multiple mitochondria related genes regulated by AMPK in BeWo cells, and among them, three clusters of genes may potentially contribute to altered mitochondrial functions in response to reduced AMPK signaling.},
}

Humans
*Trophoblasts/metabolism
*Mitochondria/genetics/metabolism
*AMP-Activated Protein Kinases/metabolism/genetics
RNA-Seq
Adenosine Triphosphate/metabolism
Cell Line
Gene Expression Regulation
Protein Interaction Maps
Signal Transduction
Pregnancy
Female
Gene Expression Profiling

@article {pmid39445528,
year = {2024},
author = {Zhao, Z and Li, L and He, M and Li, Y and Ma, X and Zhao, B},
title = {Prognostic and Predictive Markers for Early Stage Triple-Negative Breast Cancer Treated With Platinum-Based Neoadjuvant Chemotherapy.},
journal = {Cancer medicine},
volume = {13},
number = {20},
pages = {e70336},
pmid = {39445528},
issn = {2045-7634},
support = {2019D01C258//The Natural Science Foundation of Xinjiang Uygur Autonomous Region/ ; },
mesh = {Humans ; *Triple Negative Breast Neoplasms/drug therapy/genetics/mortality/pathology ; Female ; *Neoadjuvant Therapy/methods ; Middle Aged ; *Polymorphism, Single Nucleotide ; Prognosis ; *BRCA1 Protein/genetics ; *Biomarkers, Tumor/genetics ; Adult ; *Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Neoplasm Staging ; BRCA2 Protein/genetics ; Aged ; X-ray Repair Cross Complementing Protein 1/genetics ; Prospective Studies ; Treatment Outcome ; },
abstract = {BACKGROUND: Emerging evidence has indicated possible efficacy benefit of platinum-based chemotherapy as neoadjuvant treatment for invasive ductal carcinoma triple-negative breast cancer (TNBC). However, it has not been endorsed by current guidelines due to highly controversial results.

MATERIALS AND METHODS: Present study aims to investigate predictive and prognostic roles concerning single nucleotide polymorphisms (SNPs) in XRCC1 and BRCA1, BRCA2 genes for early stage TNBC patients that received platinum-based neoadjuvant treatment. We prospectively enrolled women with stage IIB-IIIB TNBC that had progressed on neoadjuvant taxane and anthracycline-based chemotherapy at Xinjiang Medical University Affiliated Cancer Hospital. Tumor response and pathological complete response (pCR) rate were assessed. Invasive disease-free survival (iDFS) and overall survival (OS) were analyzed. Patients' blood samples were subject to Sanger sequencing to genotype XRCC1 Arg194Trp and Arg399Gln, BRCA1 s1799949, and BRCA2 rs206115. Univariate and multivariate logistic regressions were employed to investigate associations between SNPs and clinical characteristics with treatment response and pCR. A total of 45 patients were enrolled.

RESULTS: The cohort showcased ORR of 44.4%, pCR of 28.9%, median iDFS of 22 months, and a 3-year OS of 73.3%. The A/G and G/G genotypes of BRCA1 rs1799949, and the T/T genotype of BRCA2 rs206115 were associated with higher responsive rate. Histologic grade of III and Ki67 expression > 65% were associated with low responsive rate. Moreover, the A/G genotype of BRCA1 rs1799949 and T/T genotype of BRCA2 rs206115 correlated to high pCR. The histologic III and T4 stage correlated to inferior iDFS. Carrier of BRCA1 rs1799949 G/G had the most favorable OS, carriers of A/A showed the poorest OS, and those with A/G genotype showed an intermediate OS.

CONCLUSIONS: Platinum-based chemotherapy might serve as a therapeutic option for TNBC patients who were resistant to anthracycline- and taxane-based neoadjuvant therapy. Our study identified several genetic and clinical features that might function as prognostic and predictive markers.},
}

Humans
*Triple Negative Breast Neoplasms/drug therapy/genetics/mortality/pathology
Female
*Neoadjuvant Therapy/methods
Middle Aged
*Polymorphism, Single Nucleotide
Prognosis
*BRCA1 Protein/genetics
*Biomarkers, Tumor/genetics
Adult
*Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Neoplasm Staging
BRCA2 Protein/genetics
Aged
X-ray Repair Cross Complementing Protein 1/genetics
Prospective Studies
Treatment Outcome

@article {pmid39435217,
year = {2024},
author = {Kumaravel, A and Esakki, M},
title = {Comparing CD10 Expression With the Clinicopathological Features and Hormone Status of Invasive Breast Cancer.},
journal = {Cureus},
volume = {16},
number = {9},
pages = {e69836},
pmid = {39435217},
issn = {2168-8184},
abstract = {Background Worldwide, female breast cancer is the most common cancer (11.7%), followed by lung (11.4%), colorectal, prostate, and stomach. Breast cancer is the fifth most common cause of cancer-related mortality, with lung cancer being the leading cause. In India, breast and cervical cancers are the two most common cancers among women. This study was undertaken to analyse the expression of CD10 in invasive duct cancer (IDC) and its correlation with the various clinicopathological features and hormone status. Materials and methods This study was conducted in the Department of Pathology, Saveetha Medical College and Hospital on 42 cases of invasive ductal carcinoma - no special type (IDC NST). The clinical and histopathologic parameters such as age, tumor site, tumor size, histologic type, histologic grade, lymph node metastases, lymphovascular invasion, and perineural invasion were assessed in hematoxylin and eosin-stained sections of the tumor tissue along with the hormone status of positivity for ER, PR and Her2Neu. These parameters were subsequently compared with the expression of CD10 in the corresponding slides and statsitical correlation was done using the chi square test. Results The most common age group was more than 40 years, with 41-50 years, and 51-60 years in particular. CD10 was positive in 93% of cases. There was a positive correlation between CD 10 expression and lymphovascular invasion in the study (p-0.006). There was no significant relationship between hormone status and CD10 expression. Conclusion A significant association was seen between CD10 expression and lymphovascular invasion. No relation was found between CD10 and the other parameters such as tumour grade, lymph node metastases, lymphovascular invasion, perineural invasion and hormone status. Further studies are required to explore the potential of CD10 as a prognostic marker for IDC.},
}

@article {pmid39418320,
year = {2025},
author = {Schwarz, D and Le Marois, M and Sturm, V and Peters, AS and Longuespée, R and Helm, D and Schneider, M and Eichmüller, B and Hidmark, AS and Fischer, M and Kender, Z and Schwab, C and Hausser, I and Weis, J and Dihlmann, S and Böckler, D and Bendszus, M and Heiland, S and Herzig, S and Nawroth, PP and Szendroedi, J and Fleming, T},
title = {Exploring Structural and Molecular Features of Sciatic Nerve Lesions in Diabetic Neuropathy: Unveiling Pathogenic Pathways and Targets.},
journal = {Diabetes},
volume = {74},
number = {1},
pages = {65-74},
pmid = {39418320},
issn = {1939-327X},
support = {GRK 1874/2//DFG/ ; //Deutsche Forschungsgemeinschaft/ ; //German Centre for Diabetes Research/ ; },
mesh = {*Diabetic Neuropathies/metabolism/pathology ; Humans ; *Sciatic Nerve/metabolism/pathology ; Male ; *Diabetes Mellitus, Type 2/metabolism/complications ; Middle Aged ; *Proteomics ; Female ; Aged ; Blood-Nerve Barrier/metabolism ; Magnetic Resonance Imaging ; Adult ; },
abstract = {Lesioned fascicles (LFs) in the sciatic nerves of individuals with diabetic neuropathy (DN) correlate with clinical symptom severity. This study aimed to characterize the structural and molecular composition of these lesions to better understand DN pathogenesis. Sciatic nerves from amputees with and without type 2 diabetes (T2D) were examined using ex vivo magnetic resonance neurography, in vitro imaging, and proteomic analysis. Lesions were only found in T2D donors and exhibited significant structural abnormalities, including axonal degeneration, demyelination, and impaired blood-nerve barrier (BNB). Although non-LFs from T2D donors showed activation of neuroprotective pathways, LFs lacked this response and instead displayed increased complement activation via the classical pathway. The detection of liver-derived acute-phase proteins suggests that BNB disruption facilitates harmful interorgan communication between the liver and nerves. These findings reveal key molecular mechanisms contributing to DN and highlight potential targets for therapeutic intervention.},
}

*Diabetic Neuropathies/metabolism/pathology
Humans
*Sciatic Nerve/metabolism/pathology
Male
*Diabetes Mellitus, Type 2/metabolism/complications
Middle Aged
*Proteomics
Female
Aged
Blood-Nerve Barrier/metabolism
Magnetic Resonance Imaging
Adult

@article {pmid39393363,
year = {2025},
author = {Xu, J and Accola, MA and Rehrauer, WM and Weisman, PS},
title = {Pilomatrix-like breast carcinoma: A mammary analog of pilomatrix-like high-grade endometrioid carcinoma (PiMHEC).},
journal = {American journal of clinical pathology},
volume = {163},
number = {3},
pages = {388-394},
doi = {10.1093/ajcp/aqae132},
pmid = {39393363},
issn = {1943-7722},
support = {//University of Wisconsin-Madison/ ; //School of Medicine and Public Health/ ; //Department of Pathology and Laboratory Medicine/ ; },
mesh = {Humans ; Female ; *Carcinoma, Endometrioid/pathology/genetics/metabolism ; *Triple Negative Breast Neoplasms/pathology/genetics/metabolism ; *Pilomatrixoma/pathology/genetics ; Biomarkers, Tumor/metabolism/analysis ; Middle Aged ; *Breast Neoplasms/pathology/genetics ; beta Catenin/genetics ; Mutation ; },
abstract = {OBJECTIVES: To describe what is, to our knowledge, the first recognized case of a triple-negative breast carcinoma (TNBC) with a PiMHEC-like phenotype. Pilomatrix-like high-grade endometrioid carcinoma (PiMHEC) is a high-grade carcinoma with divergent differentiation resembling cutaneous pilomatrix carcinoma that was recently described in the endometrium and ovary. For reference, pertinent features of PiMHEC include (1) high-grade basaloid to squamoid morphology with the presence of ghost cells; (2) only focal p63 and/or p40 expression despite a squamoid appearance; (3) CTNNB1 mutation, accompanied by diffusely aberrant β-catenin expression and LEF1 and/or CDX2 expression; and (4) loss of site-specific markers (ie, PAX8, ER).

METHODS: Here we report the histologic, immunophenotypic and molecular genetic features of a case of a triple-negative breast carcinoma (TNBC) with a PiMHEC-like phenotype.

RESULTS: The tumor developed immediately adjacent to a HER2+, androgen receptor (AR)+, GATA3+ conventional grade 3 invasive ductal carcinoma (IDC) with only membranous β-catenin expression. The PiMHEC-like component had all of the above-noted morphologic and immunophenotypic features of endometrial PiMHEC but with loss of GATA3 and AR rather than PAX8 and ER. Molecular analysis performed on both tumor components demonstrated a shared TP53 point mutation and an exon 3 CTNNB1 mutation restricted to the PiMHEC-like component, implying a clonal relationship with secondary acquisition of CTNNB1. Following neoadjuvant chemotherapy, the HER2+ conventional component had completely resolved, but the PiMHEC-like component had very little response.

CONCLUSIONS: This case demonstrates that a PiMHEC-like phenotype may be seen as a form of TNBC that can develop from conventional IDC, with loss of site-specific biomarkers, acquisition of CTNNB1 mutation, and resistance to conventional chemotherapy.},
}

Humans
Female
*Carcinoma, Endometrioid/pathology/genetics/metabolism
*Triple Negative Breast Neoplasms/pathology/genetics/metabolism
*Pilomatrixoma/pathology/genetics
Biomarkers, Tumor/metabolism/analysis
Middle Aged
*Breast Neoplasms/pathology/genetics
beta Catenin/genetics
Mutation

@article {pmid39392173,
year = {2024},
author = {Huang, YJ and Lin, JA and Chen, WM and Shia, BC and Wu, SY},
title = {Statin Therapy Reduces Radiation-Induced Cardiotoxicity in Patients With Breast Cancer Receiving Adjuvant Radiotherapy.},
journal = {Journal of the American Heart Association},
volume = {13},
number = {20},
pages = {e036411},
pmid = {39392173},
issn = {2047-9980},
mesh = {Humans ; Female ; *Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Middle Aged ; Retrospective Studies ; *Cardiotoxicity ; Radiotherapy, Adjuvant/adverse effects ; Taiwan/epidemiology ; Aged ; Breast Neoplasms/radiotherapy ; Incidence ; Mastectomy, Segmental ; Registries ; Risk Assessment ; Radiation Injuries/epidemiology/prevention & control/etiology ; Adult ; Carcinoma, Ductal, Breast/radiotherapy ; Risk Factors ; Treatment Outcome ; },
abstract = {BACKGROUND: To evaluate the efficacy of statin therapy in reducing major adverse cardiovascular event (MACE) risk among patients with breast cancer undergoing breast-conserving surgery and adjuvant whole breast radiotherapy.

METHODS AND RESULTS: A retrospective cohort study was conducted using data from the Taiwan Cancer Registry Database linked to the National Health Insurance Research Database. Patients diagnosed with left-sided early breast invasive ductal carcinoma between 2016 and 2019 were included. Propensity score matching was employed to compare MACE risk between statin users and nonusers. Cox regression models were used to estimate adjusted hazard ratios (aHRs) for MACE, considering cumulative defined daily doses and daily defined doses of statins. Among 1481 patients undergoing breast-conserving surgery and adjuvant whole breast radiotherapy, statin use significantly reduced MACE risk (aHR, 0.34 [95% CI, 0.25-0.44]). Hydrophilic statins, particularly rosuvastatin and pravastatin, demonstrated the greatest risk reduction. Higher cumulative defined daily doses and daily intensity doses of statins were associated with lower MACE risk, indicating a dose-response relationship. The 5-year cumulative incidence of MACE was significantly lower in statin users compared with nonusers (12.24% versus 31.70%).

CONCLUSIONS: Statin therapy is associated with a reduced risk of MACE in patients with breast cancer undergoing breast-conserving surgery and adjuvant whole breast radiotherapy. Hydrophilic statins rosuvastatin and pravastatin exhibit the most pronounced cardioprotective effects. These findings suggest a potential role for statins in mitigating cardiovascular complications in this population and highlight the need for further research to optimize statin therapy in survivors of breast cancer undergoing radiotherapy.},
}

Humans
Female
*Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use
Middle Aged
Retrospective Studies
*Cardiotoxicity
Radiotherapy, Adjuvant/adverse effects
Taiwan/epidemiology
Aged
Breast Neoplasms/radiotherapy
Incidence
Mastectomy, Segmental
Registries
Risk Assessment
Radiation Injuries/epidemiology/prevention & control/etiology
Adult
Carcinoma, Ductal, Breast/radiotherapy
Risk Factors
Treatment Outcome

@article {pmid39382167,
year = {2024},
author = {Koumantou, D and Adiko, AC and Bourdely, P and Nugue, M and Boedec, E and El-Benna, J and Monteiro, R and Saveanu, C and Laffargue, M and Wymann, MP and Dalod, M and Guermonprez, P and Saveanu, L},
title = {Specific Requirement of the p84/p110γ Complex of PI3Kγ for Antibody-Activated, Inducible Cross-Presentation in Murine Type 2 DCs.},
journal = {Advanced science (Weinheim, Baden-Wurttemberg, Germany)},
volume = {11},
number = {44},
pages = {e2401179},
pmid = {39382167},
issn = {2198-3844},
support = {ANR-11-IDEX-0005-02//Agence Nationale de la Recherche/ ; ANR-15-CE15-0005//Agence Nationale de la Recherche/ ; ANR-17-CE11-0001//Agence Nationale de la Recherche/ ; //Fondation pour la Recherche Medicale/ ; ANR-10-EQPX-03//ICGex NGS platform of the Institut Curie/ ; ANR-10-INBS-09-08//ICGex NGS platform of the Institut Curie/ ; INCa-DGOS-465//SiRIC-Curie program/ ; INCa-DGOS- Inserm_12554//SiRIC-Curie program/ ; SNF-310030-189065/SNSF_/Swiss National Science Foundation/Switzerland ; },
mesh = {Animals ; Mice ; *Dendritic Cells/immunology/metabolism ; *Cross-Priming/immunology ; *Mice, Inbred C57BL ; Class Ib Phosphatidylinositol 3-Kinase/metabolism/immunology/genetics ; Antigen Presentation/immunology ; },
abstract = {Cross-presentation by MHCI is optimally efficient in type 1 dendritic cells (DC) due to their high capacity for antigen processing. However, through specific pathways, other DCs, such as type 2 DCs and inflammatory DCs (iDCs) can also cross-present antigens. FcγR-mediated uptake by type 2 DC and iDC subsets mediates antibody-dependent cross-presentation and activation of CD8[+] T cell responses. Here, an important role for the p84 regulatory subunit of PI3Kγ in mediating efficient cross-presentation of exogenous antigens in otherwise inefficient cross-presenting cells, such as type 2 DCs and GM-CSF-derived iDCs is identified. FcγR-mediated cross-presentation is shown in type 2 and iDCs depend on the enzymatic activity of the p84/p110γ complex of PI3Kγ, which controls the activity of the NADPH oxidase NOX2 and ROS production in murine spleen type 2 DCs and GM-CSF-derived iDCs. In contrast, p84/p110γ is largely dispensable for cross-presentation by type 1 DCs. These findings suggest that PI3Kγ-targeted therapies, currently considered for oncological practice, may interfere with the ability of type 2 DCs and iDCs to cross-present antigens contained in immune complexes.},
}

Animals
Mice
*Dendritic Cells/immunology/metabolism
*Cross-Priming/immunology
*Mice, Inbred C57BL
Class Ib Phosphatidylinositol 3-Kinase/metabolism/immunology/genetics
Antigen Presentation/immunology

@article {pmid39365417,
year = {2025},
author = {Taira, S and Kawagoe, M and Anzai, H and Yasukawa, M and Asakawa, S and Arai, S and Yamazaki, O and Tamura, Y and Oshima, Y and Numakura, S and Ohashi, R and Shibata, S and Fujigaki, Y},
title = {Immunoglobulin A-dominant membranoproliferative glomerulonephritis-like pattern of injury as a possible paraneoplastic nephropathy in a breast cancer patient.},
journal = {CEN case reports},
volume = {14},
number = {2},
pages = {217-223},
pmid = {39365417},
issn = {2192-4449},
mesh = {Humans ; Female ; *Breast Neoplasms/complications/therapy/pathology ; *Glomerulonephritis, Membranoproliferative/diagnosis/pathology/etiology ; Middle Aged ; *Immunoglobulin A ; *Paraneoplastic Syndromes/diagnosis/pathology/etiology ; Hematuria/etiology ; *Glomerulonephritis, IGA/diagnosis/pathology ; Proteinuria/etiology ; *Carcinoma, Ductal, Breast/complications/therapy/pathology ; Biopsy ; Kidney/pathology ; },
abstract = {A middle-aged woman was found to have proteinuria during a health check-up. About sixteen months later, she was diagnosed with stage IIA invasive ductal carcinoma of the right breast. Her proteinuria progressed to nephrotic syndrome with significant hematuria. Hormone therapy was initiated for her estrogen and progesterone receptor-positive breast cancer. A kidney biopsy performed 47 days after starting the therapy revealed an IgA-dominant membranoproliferative glomerulonephritis-like pattern of injury. Electron microscopy showed subendothelial-dominant electron-dense deposits (EDD), with small amounts of mesangial EDD and a single occurrence of subepithelial hump-like EDD, along with occasional mesangial interpositions. Similar pathology can be caused by IgA vasculitis with nephritis, IgA-dominant infection-associated glomerulonephritis, and liver disease-associated glomerulopathy, but all of these were ruled out. The deposited IgA was found to be galactose-deficient IgA1. Thus, IgA nephropathy with glomerular capillary IgA deposition was considered. She underwent a right partial mastectomy and sentinel lymph node biopsy in the right axilla 75 days after starting hormone therapy, followed by adjuvant radiation. Proteinuria and hematuria tended to decrease after the treatment, and this trend continued even after corticosteroid therapy for glomerulonephritis, which was administered 156 days after starting hormone therapy. Approximately 15 months after starting hormone therapy, her proteinuria had reduced to around 1.0 g/g of creatinine, and her hematuria was negative. IgA nephropathy with glomerular capillary IgA deposition is known to be resistant to corticosteroid therapy. The favorable clinical course of the rare glomerulopathy following breast cancer treatment suggested a diagnosis of paraneoplastic glomerulopathy secondary to breast cancer in our patient.},
}

Humans
Female
*Breast Neoplasms/complications/therapy/pathology
*Glomerulonephritis, Membranoproliferative/diagnosis/pathology/etiology
Middle Aged
*Immunoglobulin A
*Paraneoplastic Syndromes/diagnosis/pathology/etiology
Hematuria/etiology
*Glomerulonephritis, IGA/diagnosis/pathology
Proteinuria/etiology
*Carcinoma, Ductal, Breast/complications/therapy/pathology
Biopsy
Kidney/pathology

@article {pmid39363164,
year = {2024},
author = {Sun, Y and Pan, Z and Wang, Z and Wang, H and Wei, L and Cui, F and Zou, Q and Zhang, Z},
title = {Single-cell transcriptome analysis reveals immune microenvironment changes and insights into the transition from DCIS to IDC with associated prognostic genes.},
journal = {Journal of translational medicine},
volume = {22},
number = {1},
pages = {894},
pmid = {39363164},
issn = {1479-5876},
support = {62102064//National Natural Science Foundation of China/ ; 62261018//National Natural Science Foundation of China/ ; 62262015//National Natural Science Foundation of China/ ; ZDYF2024GXJS01//Science and Technology special fund of Hainan Province/ ; 324MS009//Hainan Provincial Natural Science Foundation of China/ ; },
mesh = {Humans ; *Single-Cell Analysis ; Female ; *Tumor Microenvironment/genetics/immunology ; *Gene Expression Profiling ; Prognosis ; *Carcinoma, Intraductal, Noninfiltrating/genetics/immunology/pathology ; *Breast Neoplasms/genetics/immunology/pathology ; *Gene Expression Regulation, Neoplastic ; *Carcinoma, Ductal, Breast/genetics/pathology/immunology ; *Disease Progression ; Transcriptome/genetics ; Single-Cell Gene Expression Analysis ; },
abstract = {BACKGROUND: Ductal carcinoma in situ (DCIS) of the breast is an early stage of breast cancer, and preventing its progression to invasive ductal carcinoma (IDC) is crucial for the early detection and treatment of breast cancer. Although single-cell transcriptome analysis technology has been widely used in breast cancer research, the biological mechanisms underlying the transition from DCIS to IDC remain poorly understood.

RESULTS: We identified eight cell types through cell annotation, finding significant differences in T cell proportions between DCIS and IDC. Using this as a basis, we performed pseudotime analysis on T cell subpopulations, revealing that differentially expressed genes primarily regulate immune cell migration and modulation. By intersecting WGCNA results of T cells highly correlated with the subtypes and the differentially expressed genes, we identified six key genes: FGFBP2, GNLY, KLRD1, TYROBP, PRF1, and NKG7. Excluding PRF1, the other five genes were significantly associated with overall survival in breast cancer, highlighting their potential as prognostic biomarkers.

CONCLUSIONS: We identified immune cells that may play a role in the progression from DCIS to IDC and uncovered five key genes that can serve as prognostic markers for breast cancer. These findings provide insights into the mechanisms underlying the transition from DCIS to IDC, offering valuable perspectives for future research. Additionally, our results contribute to a better understanding of the biological processes involved in breast cancer progression.},
}

Humans
*Single-Cell Analysis
Female
*Tumor Microenvironment/genetics/immunology
*Gene Expression Profiling
Prognosis
*Carcinoma, Intraductal, Noninfiltrating/genetics/immunology/pathology
*Breast Neoplasms/genetics/immunology/pathology
*Gene Expression Regulation, Neoplastic
*Carcinoma, Ductal, Breast/genetics/pathology/immunology
*Disease Progression
Transcriptome/genetics
Single-Cell Gene Expression Analysis