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Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications

Michael A Postow1 and Mark E Robson123*

Author Affiliations

1 Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

2 Clinical Genetics and Breast Cancer Medicine Services, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

3 Weill Cornell Medical College of Cornell University, New York, NY, USA

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Clinical Sarcoma Research 2012, 2:16  doi:10.1186/2045-3329-2-16

Published: 4 October 2012


The discovery of underlying molecular genetic abnormalities in gastrointestinal stromal tumors (GISTs) such as activating mutations in the tyrosine kinase genes, KIT and platelet derived growth factor receptor-alpha (PDGFRA), has led to remarkable clinical advances in treatment. Small molecule inhibitors such as imatinib and sunitinib are known to inhibit the aberrantly activated KIT and PDGFRA receptor signaling and can lead to excellent clinical outcomes for patients with GIST. Though the majority of GISTs appear to arise sporadically, a number of families with high frequencies of GISTs have been reported and germline mutations have been identified. This review will highlight the various inherited mutations associated with familial GIST syndromes and describe how an improved understanding of these genetic syndromes has important clinical implications for future understanding of this heterogeneous disease.

Gastrointestinal stromal tumor; c-KIT; Platelet-derived growth factor-alpha; Neurofibromatosis; Carney triad; Carney-stratakis syndrome; Succinate dehydrogenase