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Inherited GIST

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Abstract

Gastrointestinal stromal tumors (GIST) can occur as a component of several cancer predisposition syndromes. Rare families have germline mutations in KIT or PDGFRA, and not unexpectedly, GIST is a prominent feature in this inherited cancer predisposition syndrome called familial GIST. Patients with neurofibromatosis type 1 (NF1) have an increased risk of developing GIST with approximately 7 % of patients with NF1 developing GIST. The biology and treatment of GIST occurring in NF1 and familial GIST are similar to GIST occurring in the absence of a heritable cancer syndrome in that they are driven by mutations leading to increased kinase signaling. In contrast, GIST occurring as a part of Carney Triad, Carney-Stratakis Dyad, and hereditary paraganglioma syndromes has unique underlying biology, epidemiology, clinic-pathologic features, and disease course (Table 1).

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Authors and Affiliations

  1. Harvard Medical School, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, 450 Brookline Ave, Boston, MA, 02215, USA

    Katherine A. Janeway MD, MMSc

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  1. Katherine A. Janeway MD, MMSc
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Correspondence to Katherine A. Janeway MD, MMSc .

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Editors and Affiliations

  1. School of Medicine, University of Louisville, Louisville, Kentucky, USA

    Charles R. Scoggins

  2. Brigham & Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

    Chandrajit P. Raut

  3. Harvard Medical School, Boston, Massachusetts, USA

    John T. Mullen

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Janeway, K.A. (2017). Inherited GIST. In: Scoggins, C., Raut, C., Mullen, J. (eds) Gastrointestinal Stromal Tumors. Springer, Cham. https://doi.org/10.1007/978-3-319-42632-7_4

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  • DOI: https://doi.org/10.1007/978-3-319-42632-7_4

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