title: Genetics of Gastrointestinal Stromal Tumors: A Heterogeneous Family of Tumors?
abstract: Approximately 85-90% of adult gastrointestinal stromal tumors (GISTs) harbor KIT and PDGFRA mutations. The remaining cases, including the majority of pediatric GISTs, lack these mutations, and have been designated as KIT/PDGFRA wild-type (WT) GISTs. Nearly 15% of WT GISTs harbor BRAF mutations, while others arise in patients with type I neurofibromatosis. Recent work has confirmed that 20-40% of KIT/PDGFRA WT GISTs show loss of function of succinate dehydrogenase complex. Less than 5% of GISTs lack known molecular alterations ("quadruple-negative" GISTs). Thus, it is important to consider genotyping these tumors to help better define their clinical behavior and therapy.
authors: Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, L-25, Cleveland, OH 44195, USA. Electronic address: patild@ccf.org.
authors: Deepa T
authors: DT
authors: Patil
authors: Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, L-25, Cleveland, OH 44195, USA; Department of Molecular Genetics, Cleveland Clinic and Lerner Research Institute, 9500 Euclid Avenue, L-25, Cleveland, OH 44195, USA.
authors: Brian P
authors: BP
authors: Rubin
mesh_terms: D002812:Chondroma / Q000235:genetics; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D007890:Leiomyosarcoma / Q000235:genetics; D008175:Lung Neoplasms / Q000235:genetics; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000172:deficiency
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF; GIST; KIT; PDGFRA; Succinate dehydrogenase