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The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations

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Abstract

About 10–15 % of adult gastrointestinal stromal tumors (GISTs) and 85 % of pediatric GISTs do not have mutations in the KIT or PDGFRA genes and are generally classified as KIT/PDGFRA wild type (WT). Recent studies have shown that this group of KIT/PDGFRA WT GISTs is quite heterogeneous in terms of clinical phenotype, genetic etiology, and molecular pathways. Succinate dehydrogenase subunit (SDH)-deficient GISTs, which include tumors that are part of multiple endocrine neoplasia syndromes, are the newest group of KIT/PDGFRA WT GIST to be molecularly elucidated. This review aims to describe the different genetic subgroups of KIT/PDGFRA WT GIST, with a special focus on the SDH-deficient GIST.

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Authors and Affiliations

  1. The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, USA

    Sosipatros A. Boikos

  2. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA

    Constantine A. Stratakis

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  1. Sosipatros A. Boikos
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Boikos, S.A., Stratakis, C.A. The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations. Endocrine 47, 401–408 (2014). https://doi.org/10.1007/s12020-014-0346-3

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  • DOI: https://doi.org/10.1007/s12020-014-0346-3

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