| H01591 | |
| H番号 | H01591 |
| 名称 | 消化管間質腫瘍 |
| 概要 | 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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | (GIST) KIT [HSA:3815] [KO:K05091] (GIST) SDHB [HSA:6390] [KO:K00235] (GIST) SDHC [HSA:6391] [KO:K00236] (GISTPS) PDGFRA [HSA:5156] [KO:K04363] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | イマチニブメシル酸塩 [DR:D01441] (KIT陽性) スニチニブリンゴ酸塩 [DR:D06402] レゴラフェニブ水和物 [DR:D10137] ピミテスピブ [DR:D11920] |
| コメント | - |
| リンク | ICD-11: 2B5B ICD-10: C26 MeSH: D046152 OMIM: 606764 175510 |
| 文献 | PMID:25414046 著者 Yamamoto H, Oda Y タイトル Gastrointestinal stromal tumor: recent advances in pathology and genetics. 雑誌 Pathol Int 65:9-18 (2015) DOI:10.1111/pin.12230 PMID:26098203 著者 Alturkmani HJ, Pessetto ZY, Godwin AK タイトル Beyond standard therapy: drugs under investigation for the treatment of gastrointestinal stromal tumor. 雑誌 Expert Opin Investig Drugs 24:1045-58 (2015) DOI:10.1517/13543784.2015.1046594 PMID:26276366 著者 Nishida T, Blay JY, Hirota S, Kitagawa Y, Kang YK タイトル The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines. 雑誌 Gastric Cancer 19:3-14 (2016) DOI:10.1007/s10120-015-0526-8 PMID:24384849 著者 Corless CL タイトル Gastrointestinal stromal tumors: what do we know now? 雑誌 Mod Pathol 27 Suppl 1:S1-16 (2014) DOI:10.1038/modpathol.2013.173 PMID:22124674 著者 Beham AW, Schaefer IM, Schuler P, Cameron S, Ghadimi BM タイトル Gastrointestinal stromal tumors. 雑誌 Int J Colorectal Dis 27:689-700 (2012) DOI:10.1007/s00384-011-1353-y PMID:21173220 著者 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 タイトル Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 雑誌 Proc Natl Acad Sci U S A 108:314-8 (2011) DOI:10.1073/pnas.1009199108 |