SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors Academic Article uri icon

Overview

MeSH Major

  • Electron Transport Complex II
  • Gastrointestinal Neoplasms
  • Gastrointestinal Stromal Tumors
  • Mutation

abstract

  • Germline and/or somatic aberrations of SDHA occur in a small subset of KIT/PDGFRA WT GISTs, outside the Carney's triad and are associated with loss of both SDHA and SDHB protein expression. Mutations of the SDH complex II are more particularly associated with KIT/PDGFRA WT GIST occurring in young adults. Although pediatric GIST consistently display alterations of SDHB protein expression, further molecular studies are needed to identify the crucial genes involved in their tumorigenesis.

publication date

  • September 14, 2012

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC3503624

Digital Object Identifier (DOI)

  • 10.1186/1471-2407-12-408

PubMed ID

  • 22974104

Additional Document Info

start page

  • 408

volume

  • 12