Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% of gastrointestinal sarcomas, with a mean annual incidence of 10-15 per million. Nearly 50-70% of the clinically apparent tumors arise in the stomach, 20-30% arise in the small intestine, 5-15% in the large intestine, and less than 5% in other locations. The genetic basis of GIST growth is a mutation of the KIT or PDGFRA gene leading to constitutional activation of receptor tyrosine kinases, which is the driving force behind tumor development.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant mesenchymal neoplasms
2B5B Gastrointestinal stromal tumour, primary site
H01591 Gastrotintestinal stromal tumor
Janeway KA, Kim SY, Lodish M, Nose V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA
Title
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
