2010
DOI: 10.2147/tacg.s7191
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Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors

Abstract: In 1998, gastrointestinal stromal tumor (GIST) emerged as a distinct oncogenetic entity and subsequently became a paradigm of targeted therapies in solid tumors. Diagnosis of GIST relies on both histology and immunohistochemistry. Ninety-five percent of GISTs express either KIT or DOG-1. Approximately 80%–90% of GISTs harbor gain-of-function mutations of either KIT or platelet-derived growth factor receptor alpha polypeptide (PDGFRA) receptor tyrosine kinase (RTK). More than 100 different mutations have been d… Show more

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Cited by 5 publications
(2 citation statements)
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References 154 publications
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“…In these tumors, Wnt activation resulted in cell proliferation via upregulation of the TCF/β-catenin target gene CDC25A which plays a nonredondant role in regulating cell cycle [51]. Nf1 which is a negative regulator of the ras signal transduction pathway, mutated in neurofibromatosis type 1, also confers an increased risk of developing WT GISTs [52]. Ulk1, which plays an essential role in autophagosome formation through activation or regulation of the AMP activated protein kinase and mTOR, is overexpressed in esophagus squamous cell carcinoma [53].…”
Section: Discussionmentioning
confidence: 99%
“…In these tumors, Wnt activation resulted in cell proliferation via upregulation of the TCF/β-catenin target gene CDC25A which plays a nonredondant role in regulating cell cycle [51]. Nf1 which is a negative regulator of the ras signal transduction pathway, mutated in neurofibromatosis type 1, also confers an increased risk of developing WT GISTs [52]. Ulk1, which plays an essential role in autophagosome formation through activation or regulation of the AMP activated protein kinase and mTOR, is overexpressed in esophagus squamous cell carcinoma [53].…”
Section: Discussionmentioning
confidence: 99%
“…Initially, ‘GIST’ applied to neoplasms displaying only c-kit (CD117), but the diagnosis is based on histopathology and immunohistochemistry [ 6 ]. A total of 95% of GISTs express KIT or DOG 1 and have mutations in KIT or platelet-derived growth factor receptor, α polypeptide [ 7 ]. The KIT-positive cells in abdominal soft tissues include mast cells in the wall of the gastrointestinal tract; the interstitial cells of Cajal (intestinal pacemakers) around the myenteric plexus were thought to be the origin of GISTs.…”
Section: Discussionmentioning
confidence: 99%