Classification of gastrointestinal stromal tumor syndromes

    1. Sosipatros A Boikos1
    1. 1Massey Cancer Center, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
    2. 2Phillips Institute for Oral Health Research, VCU School of Dentistry and Massey Cancer Center, Virginia Commonwealth University, Richmond, Virginia, USA
    3. 3Departments of Pathology and Surgery, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
    1. Correspondence should be addressed to S Boikos: sosipatros.boikos{at}


    Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, thought to derive from neoplastic outgrowth of the interstitial cells of Cajal. Building on recent advances in recognition, classification and diagnosis, the past two decades have seen a changing paradigm with molecular diagnostics and targeted therapies. KIT and PDGFRA mutations account for 85–90% of GIST carcinogenesis. However, the remaining 10–15% of GISTs, which until recently were called KIT/PDGFRA wild-type GISTs, have been found to have one of the several mutations, including in the SDHA, B, C, D, BRAF and NF1 genes. Though most of such GISTs are sporadic, a number of families with high incidence rates of GISTs and other associated clinical manifestations have been reported and found to harbor germline mutations in KIT, PDGFRA, SDH subunits and NF1. The goal of this review is to describe the mutations, clinical manifestations and therapeutic implications of syndromic and inherited GISTs in light of recent studies of their clinicopathologic range and pathogenesis.

    • Received 21 November 2017
    • Accepted 23 November 2017
    • Made available online as an Accepted Preprint 23 November 2017
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