Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implicationsReport as inadecuate




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Clinical Sarcoma Research

, 2:16

Epidemiology of sarcomas

Abstract

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.

KeywordsGastrointestinal stromal tumor c-KIT Platelet-derived growth factor-alpha Neurofibromatosis Carney triad Carney-stratakis syndrome Succinate dehydrogenase AbbreviationsCSSCarney-Stratakis syndrome

CTCarney triad

GISTGastrointestinal stromal tumor

NF1Neurofibromatosis-1

NF2Neurofibromatosis-2

PDGFRAPlatelet derived growth factor receptor-alpha

SEERSurveillance epidemiology and end results

SDHSuccinate dehydrogenase

WTWild type.

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Author: Michael A Postow - Mark E Robson

Source: https://link.springer.com/article/10.1186/2045-3329-2-16



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