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 journalReview articlepeer-review

35 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)
Pages (from-to)74-91
Number of pages18
JournalTrends in Cancer
Issue number1
StatePublished - Jan 2018


  • BRAF
  • Carney triad
  • Carney–Stratakis syndrome
  • GIST
  • KIT
  • KRAS
  • NF-1
  • SDH
  • SDHCme
  • gastrointestinal stromal tumor
  • imatinib

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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