Article
SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Mar 2013
Oudijk Lindsey, Gaal José, Korpershoek Esther, van Nederveen Francien H, Kelly Lorna, Schiavon Gaia, Verweij Jaap, Mathijssen Ron H J, den Bakker Michael A, Oldenburg Rogier A, van Loon Rosa L E, O'Sullivan Maureen J, de Krijger Ronald R, Dinjens Winand N M
Abstract excerpt
Most gastrointestinal stromal tumors (GISTs) harbor oncogenic mutations in KIT or platelet-derived growth factor receptor-α. However, a small subset of GISTs lacks such mutations and is termed 'wild-type GISTs'. Germline mutation in any of the subunits of succinate dehydrogenase (SDH) predisposes individuals to hereditary paragangliomas and pheochromocytomas. However, germline mutations of the genes encoding SDH...
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