Gastrointestinal Stromal Tumors: The GIST of Precision Medicine

Lin Mei, Steven C. Smith, Anthony C. Faber, Jonathan Trent, Steven R. Grossman, Constantine A. Stratakis, Sosipatros A. Boikos

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


The discovery of activated KIT mutations in gastrointestinal (GI) stromal tumors (GISTs) in 1998 triggered a sea change in our understanding of these tumors and has ushered in a new paradigm for the use of molecular genetic diagnostics to guide targeted therapies. KIT and PDGFRA mutations account for 85-90% of GISTs; subsequent genetic studies have led to the identification of mutation/epimutation of additional genes, including the succinate dehydrogenase (SDH) subunit A, B, C, and D genes. This review focuses on integrating findings from clinicopathologic, genetic, and epigenetic studies, which classify GISTs into two distinct clusters: an SDH-competent group and an SDH-deficient group. This development is important since it revolutionizes our current management of affected patients and their relatives, fundamentally, based on the GIST genotype.

Original languageEnglish (US)
JournalTrends in Cancer
StateAccepted/In press - Jan 1 2017


  • BRAF
  • Carney triad
  • Carney-Stratakis syndrome
  • Gastrointestinal stromal tumor
  • GIST
  • Imatinib
  • KIT
  • KRAS
  • NF-1
  • SDH
  • SDHCme

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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