| H01591 | |
| H number | H01591 |
| Name | Gastrotintestinal stromal tumor |
| Description | 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 |
| Network | - |
| Gene | (GIST) KIT [HSA:3815] [KO:K05091] (GIST) SDHB [HSA:6390] [KO:K00235] (GIST) SDHC [HSA:6391] [KO:K00236] (GISTPS) PDGFRA [HSA:5156] [KO:K04363] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Imatinib mesylate [DR:D01441] (KIT positive) Sunitinib malate [DR:D06402] Regorafenib hydrate [DR:D10137] Avapritinib [DR:D11279] (PDGFRA mutaion positive) Ripretinib [DR:D11353] |
| Comment | - |
| Other DBs | ICD-11: 2B5B ICD-10: C26 MeSH: D046152 OMIM: 606764 175510 |
| Reference | PMID:25414046 AUTHORS Yamamoto H, Oda Y TITLE Gastrointestinal stromal tumor: recent advances in pathology and genetics. JOURNAL Pathol Int 65:9-18 (2015) DOI:10.1111/pin.12230 PMID:26098203 AUTHORS Alturkmani HJ, Pessetto ZY, Godwin AK TITLE Beyond standard therapy: drugs under investigation for the treatment of gastrointestinal stromal tumor. JOURNAL Expert Opin Investig Drugs 24:1045-58 (2015) DOI:10.1517/13543784.2015.1046594 PMID:26276366 AUTHORS Nishida T, Blay JY, Hirota S, Kitagawa Y, Kang YK TITLE The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines. JOURNAL Gastric Cancer 19:3-14 (2016) DOI:10.1007/s10120-015-0526-8 PMID:24384849 AUTHORS Corless CL TITLE Gastrointestinal stromal tumors: what do we know now? JOURNAL Mod Pathol 27 Suppl 1:S1-16 (2014) DOI:10.1038/modpathol.2013.173 PMID:22124674 AUTHORS Beham AW, Schaefer IM, Schuler P, Cameron S, Ghadimi BM TITLE Gastrointestinal stromal tumors. JOURNAL Int J Colorectal Dis 27:689-700 (2012) DOI:10.1007/s00384-011-1353-y PMID:21173220 AUTHORS 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. JOURNAL Proc Natl Acad Sci U S A 108:314-8 (2011) DOI:10.1073/pnas.1009199108 |