These include, in descending order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney's triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), germline gain-of-function mutations in c-Kit/PDGFRA, and the Carney-Stratakis syndrome.
•
--needs tweeking--> as tumors whose behavior is driven by mutations in the Kit gene or PDGFRA gene, and may or may not stain positively for Kit.
•
Most GIST cells with wildtype (i.e. not mutated) c-kit instead have a mutation in another gene, PDGFR-α (platelet derived growth factor receptor alpha), which is a related tyrosine kinase.
tumor | brain tumor | tumor suppressor gene | Brain tumor | Society of American Gastrointestinal and Endoscopic Surgeons | American Society for Gastrointestinal Endoscopy | Wilms' tumor | Tumor promotion | Tumor necrosis factors | Tumor | Pancoast tumor | gastrointestinal stromal tumor | Gastrointestinal cancer | Gastrointestinal bleeding | Bone tumor |
A third condition, the Carney-Stratakis syndrome (CSS), describes the dyad of hereditary gastrointestinal stromal tumor (GIST) and paraganglioma, that is caused by germline mutations in the mitochondrial tumor suppressor gene pathway involving the succinate dehydrogenase subunits SDHD, SDHC and SDHB.