Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

Research output: Contribution to journalReview article


Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis. Although ligand-independent activation is the common feature of KIT mutations, the phenotypes mediated by various germline KIT mutations are different. Germline KIT mutations affect different tissues such as interstitial cells of Cajal (ICC), mast cells or melanocytes, and thereby lead to GIST, mastocytosis, or abnormal pigmentation. In this review, we summarize germline KIT mutations in familial mastocytosis and GIST and discuss the possible cellular context dependent transforming activity of KIT mutations.


External organisations
  • Ningxia Medical University
  • Chinese University of Hong Kong
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology
  • Cell and Molecular Biology


  • Cancer, KIT, Signal transduction, Targeted therapy
Original languageEnglish
Article number55
JournalCell and Bioscience
Issue number1
Publication statusPublished - 2016 Oct 18
Publication categoryResearch