KEGG   DISEASE: 消化管間質腫瘍
エントリ  
H01591                                                             
名称    
消化管間質腫瘍
  下位グループ
GIST-plus 症候群 (GISTPS)
  上位グループ
固形腫瘍 [DS:H02421]
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
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  消化器系のがん
   H01591  消化管間質腫瘍
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    悪性間葉系腫瘍
     2B5B  消化管間質腫瘍, 原発巣
      H01591  消化管間質腫瘍
パスウェイ 
hsa05200  がんのパスウェイ
関連パスウェイ
hsa04072 Phospholipase D signaling pathway   
hsa04151 PI3K-Akt signaling pathway   
hsa00190 Oxidative phosphorylation   
hsa00020 Citrate cycle (TCA cycle)   
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]
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]
リンク   
ICD-11: 2B5B
ICD-10: C26
MeSH: D046152
OMIM: 606764 175510
文献    
PMID:25414046 (gene, drug)
  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
文献    
PMID:26098203 (description, gene, drug)
  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
文献    
PMID:26276366 (gene, drug)
  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
文献    
PMID:24384849 (description, gene, drug)
  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
文献    
PMID:22124674 (description, gene, drug)
  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
文献    
  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
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