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ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case.
Virchows Arch
January 2025
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, 37044, Tours, France.
A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame ACTB::ZMIZ2 fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame ACTB::ZMIZ2 fusion transcript. This 2.
View Article and Find Full Text PDFA proteogenomic analysis of the adiposity colorectal cancer relationship identifies GREM1 as a probable mediator.
Int J Epidemiol
December 2024
International Agency for Research on Cancer (IARC/WHO), Nutrition and Metabolism Branch, Lyon, France.
Background: Adiposity is an established risk factor for colorectal cancer (CRC). The pathways underlying this relationship, and specifically the role of circulating proteins, are unclear.
Methods: Utilizing two-sample univariable Mendelian randomization (UVMR), multivariable Mendelian randomization (MVMR), and colocalization, based on summary data from large sex-combined and sex-specific genetic studies, we estimated the univariable associations between: (i) body mass index (BMI) and waist-hip ratio (WHR) and overall and site-specific (colon, proximal colon, distal colon, and rectal) CRC risk, (ii) BMI and WHR and circulating proteins, and (iii) adiposity-associated circulating proteins and CRC risk.
Cause of Death Analysis in a 9½-Year-Old with COVID-19 and Dravet Syndrome.
Pathophysiology
January 2025
Division of Anatomical Pathology, Department of Pathology, College of Medicine, University of Saskatchewan, Royal University Hospital, 103 Hospital Drive, Saskatoon, SK S7N 0W8, Canada.
: Cause of death analysis is fundamental to forensic pathology. We present the case of a 9½-year-old girl with a genetically confirmed diagnosis of Dravet syndrome who died in her sleep with no evidence of motor seizure. She also had a lifelong history of recurrent pneumonias and, along with her family, had tested positive for COVID-19 10 days before death.
View Article and Find Full Text PDFDeciphering the Differences Between Epstein-Barr Virus-Associated and Negative Gastric Cancer in the Prospect of CDKN2A Genomic Alterations and Lymphoid Infiltration.
Cancer Med
January 2025
Department of Anatomical and Cellular Pathology, State Key Laboratory of Translational Oncology, Sir Y.K. Pao Cancer Center, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, China.
Background: Gastric cancer (GC) is a major health concern worldwide. One important contributing factor is the presence of the Epstein-Barr virus (EBV). However, the molecular pattern of how EBV participates in the malignant transition process remains unclear.
View Article and Find Full Text PDFSarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.
Cell Death Dis
January 2025
Department of Anatomical, Histological, Forensic Sciences and Orthopedics, Sapienza University of Rome, 00161, Rome, Italy.
Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. Little is known about the different roles of the SGC beyond the dystrophin glycoprotein complex (DGC) structural role.
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