Using molecular diagnostic testing to personalize the treatment of patients with gastrointestinal stromal tumors

Amber E. Bannon, Lillian R. Klug, Christopher L. Corless, Michael C. Heinrich

Research output: Contribution to journalReview articlepeer-review

32 Scopus citations


Introduction: The diagnosis and treatment of gastrointestinal stromal tumor (GIST) has emerged as a paradigm for modern cancer treatment (‘precision medicine’), as it highlights the importance of matching molecular defects with specific therapies. Over the past two decades, the molecular classification and diagnostic work up of GIST has been radically transformed, accompanied by the development of molecular therapies for specific subgroups of GIST. This review summarizes the developments in the field of molecular diagnosis of GIST, particularly as they relate to optimizing medical therapy. Areas covered: Based on an extensive literature search of the molecular and clinical aspects of GIST, the authors review the most important developments in this field with an emphasis on the differential diagnosis of GIST including mutation testing, therapeutic implications of each molecular subtype, and emerging technologies relevant to the field. Expert commentary: The use of molecular diagnostics to classify GIST has been shown to be successful in optimizing patient treatment, but these methods remain under-utilized. In order to facilitate efficient and comprehensive molecular testing, the authors have developed a decision tree to aid clinicians.

Original languageEnglish (US)
Pages (from-to)445-457
Number of pages13
JournalExpert Review of Molecular Diagnostics
Issue number5
StatePublished - May 4 2017


  • BRAF
  • Gastrointestinal stromal tumors
  • KIT
  • KRAS
  • NF1
  • RTK translocations
  • SDH
  • imatinib
  • receptor tyrosine kinases
  • regorafenib
  • sunitinib

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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