KEGG   DISEASE: Gastrotintestinal stromal tumor
Entry
H01591                      Disease                                
Name
Gastrotintestinal stromal tumor
  Subgroup
GIST-plus syndrome (GISTPS)
  Supergrp
Solid tumor [DS:H02421]
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
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of the digestive system
   H01591  Gastrotintestinal stromal tumor
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
Pathway
hsa04072  Phospholipase D signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa00190  Oxidative phosphorylation
hsa00020  Citrate cycle (TCA cycle)
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]
Drug
Imatinib mesylate [DR:D01441] (KIT positive)
Sunitinib malate [DR:D06402]
Regorafenib hydrate [DR:D10137]
Avapritinib [DR:D11279] (PDGFRA mutaion positive)
Ripretinib [DR:D11353]
Other DBs
ICD-11: 2B5B
ICD-10: C26
MeSH: D046152
OMIM: 606764 175510
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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