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Greater omentum gastrointestinal stromal tumor with PDGFRA-mutation and hemoperitoneum

World Journal of Gastrointestinal Oncology 2012年第5期4卷 119-124页

作者： Yoko Murayama Masayuki Yamamoto Ryuichiro Iwasaki tamana miyazaki Yukiko Saji Yoshinori Doi Haruki Fukuda Seiichi Hirota Masahiro Hiratsuka Department of Gastroenterology and Hepatology Itami City HospitalItami 6648540Japan Department of Surgery Itami City HospitalItami 6648540Japan Department of Gastroenterology and Hepatology Otemae HospitalOsaka 5400008Japan Department of Pathology Itami City HospitalItami 6648540Japan Department of Surgical Pathology Hyogo College of MedicineNishinomiya 6638501Japan

Although gastrointestinal stromal tumor(GIST) occurs generally in the digestive tract,omental GIST is very *** report the first case of an adult greater omental GIST with a new platelet-derived growth factor receptor α gene(PDGFRA)-mutation with hemoperitoneum.A 43-year-old man was admitted to our hospital complaining of acute abdominal *** contrast-enhanced computed tomography revealed a huge mass in the right abdominal cavity,and a large accumulation of fluid in the pelvic cavity,suggesting *** diagnosed the rupture as an intra-abdominal tumor,and an emergency tumorectomy was performed with resection of the greater *** tumor was located in the distal right side ofthe greater omentum,and showed no continuity with the gastric *** tumor occurred primarily in the greater *** resected tumor was about 19 cm × 12 cm × 14 cm in diameter,and weighed 1529 ***,the tumor was composed of epithelioidshaped cells with high cellularity,and was positive for CD117 and CD34,and negative for S-100,α-smooth muscle *** mitosis was 6/50 under high power *** case showed exon 18 mutation of PDGFRA with 846(Asp to Glu) substitution,848(Asn to Lys) *** is the first report of this PDGFRA mutation in omental GIST,and this might play an important role in the tumorigenesis of this *** on these findings,the tumor was diagnosed as high risk GIST primarily occurring in the greater *** patient was treated with imatinib at a dose of 400 mg/d as adjuvant chemotherapy,and has been followed up for 24 mo with no evidence of recurrence.

关键词： Gastrointestinal stromal tumor Greater omentum Hemoperitoneum Platelet-derived growth factor receptor α gene KIT

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Pleckstrin Homology-Like Domain, Family A, Member 1 (PHLDA1): A Multifaceted Cell Survival Factor that Drives Metabolic Disease

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Engineering 2023年第1期20卷 9-18页

作者： tamana Yousof Jae Hyun Byun Jack Chen Richard C.Austin Department of Medicine Division of NephrologyMcMaster UniversityThe Research Institute of St.Joe’s Hamilton and the Hamilton Centre for Kidney ResearchHamiltonOntarioL8N 4A6Canada

Pleckstrin homology-like domain, family A, member 1 (PHLDA1) is a multifaceted intracellular protein belonging to the evolutionarily conserved pleckstrin homology-related domain family. Its murine homologue, T-cell death-associated 51 (TDAG51) gene, was initially discovered for its role in activation-induced apoptosis in T-cell hybridomas. In recent years, PHLDA1 has received increased attention due to its association with obesity, fatty liver disease, diabetes, atherosclerosis, and cancer. Accumulating evidence also supports its role in endoplasmic reticulum stress signaling pathways as a crucial mediator of apoptosis, autophagy, and cell proliferation. In this review, the current knowledge of PHLDA1 gene and protein regulation, localization, and function is summarized. This review highlights the pro- and anti-apoptotic roles of PHLDA1 that contribute to vast array of metabolic diseases.

关键词： ER-stress Metabolism Apoptosis Cell survival PHLDA1

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