An Educational Service for Medical Oncologists, Gastroenterologists and other GIST Care Providers Impact of Molecular Subtypes on Resistance to Therapy New Perspectives on Genetics of GIST Lacking KIT, PDGFRA Mutations Surgery in Metastatic GIST: Optimizing Outcomes
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An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
BACKGROUND About 85% of paediatric gastrointestinal stromal tumours (GISTs) and about 10-15% of adult GISTs do not harbour any mutations in the KIT and PDGFRA genes and are defined as KIT/PDGFRA wild type (WT). Over the years it has been demonstrated that KIT/PDGFRA WT GISTs are profoundly different from mutant GIST in clinical and molecular profiles, so that they are now considered a separate ...
متن کاملNovel clinically relevant genes in GIST--letter.
Schoppmann and colleagues (1) have recently investigated 174 gastrointestinal stromal tumor (GIST) by DNA array, FISH, exome sequencing, and immunohistochemistry (IHC) and found that the majority of recurrent chromosomal imbalances were located in 12 regions of interest and that the loss of 1p and immunohistochemical expressionof RAD54L2, SYNE2, KIT, andDIAPH1were associated with survival. In o...
متن کاملCombination therapy for gastrointestinal stromal tumors: evidence from recent clinical trials
Gastrointestinal stromal tumors (GIST) are neoplasms of mesenchymal origin arising from the GI tract. These tumors are characterized by activating mutations of the receptor tyrosine kinases, either KIT or PDGFRa, which are found in 85% of cases. Despite the use of imatinib in first-line and sunitinib in second-line treatment, patients with metastatic GIST still have a high risk of progression a...
متن کاملKIT gene mutations in gastrointestinal stromal tumor.
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It arises in the stomach, small intestine, colon, rectum and esophagus. KIT gene mutation is a feature of GIST, in addition to PDGFRA gene mutation. KIT gene mutations have been observed to be involved in the development of GIST, its recurrence after surgery and chemotherapy resistance in G...
متن کاملClinical activity of regorafenib in PDGFRA-mutated gastrointestinal stromal tumor
Gastrointestinal stromal tumor (GIST) is the most frequent mesenchymal tumor of the gastrointestinal tract and one of the most frequent sarcoma. Mutually exclusive KIT and PDGFRA mutations are central events in GIST pathogenesis, and their understanding is crucial because specific treatment targeting oncogenic KIT and PDGFRA activation (especially imatinib) has become available. The most freque...
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