Gastrointestinal Stromal Tumors: The GIST of Precision Medicine.

Trends Cancer 2018 01 23;4(1):74-91. Epub 2017 Dec 23.

VCU Massey Cancer Center, Virginia Commonwealth University, Richmond, VA, USA. Electronic address:

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.

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http://dx.doi.org/10.1016/j.trecan.2017.11.006DOI Listing
January 2018
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