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GTR Home > Conditions/Phenotypes > Gastrointestinal stromal tumor


Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C-Kit, CD117, MASTC, PBT, SCFR, KIT
    Summary: KIT proto-oncogene, receptor tyrosine kinase

  • Also known as: CWS2, IP, MC2DN4, PGL4, SDH, SDH1, SDH2, SDHIP, SDHB
    Summary: succinate dehydrogenase complex iron sulfur subunit B

  • Also known as: CYB560, CYBL, PGL3, QPS1, SDH3, SDHC
    Summary: succinate dehydrogenase complex subunit C

Clinical features


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