GTR Home > Conditions/Phenotypes > Gastrointestinal stromal tumor


A stromal tumor most commonly seen in the gastrointestinal tract. Rare cases of solitary masses in the omentum or the mesentery have also been reported (extragastrointestinal gastrointestinal stromal tumor). It is a tumor that differentiates along the lines of interstitial cells of Cajal. Most cases contain KIT- or PDGFRA-activating mutations. Until recently, surgery has been the only effective therapy for this tumor. However, many patients still experience recurrence. Conventional chemotherapy and radiation therapy have been of limited value. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases. [from NCI]

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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Practice guidelines

  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • EGTM, 2014
    Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
  • UK NEQAS, 2012
    The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.

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