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Genotyping and immunohistochemistry of gastrointestinal stromal tumors: An update.

Abstract
Gastrointestinal stromal tumors (GISTs) were originally thought to harbor either KIT or platelet-derived growth factor receptor A (PDGFRA) mutations only. However, more recent discoveries have highlighted additional, less common oncogenic driver mutations including NF1, BRAF, and succinate dehydrogenase (SDH) mutations. Genotyping GISTs has become more important since not all genotypes respond equally to FDA-approved tyrosine kinase inhibitors. GIST is a paradigm for personalized cancer therapy. Recent studies demonstrate how immunohistochemistry can be used both to diagnose GIST and to screen for specific mutations. DOG1 is particularly useful in the diagnosis of KIT-negative GIST, including tumors with PDGFRA mutations, which can also potentially be identified by immunohistochemistry for PDGFRA. SDHB immunohistochemistry is useful in characterizing GISTs with SDHA-D mutations, whereas SDHA immunohistochemistry is able to identify SDHA mutant GISTs.
AuthorsBrian P Rubin, Michael C Heinrich
JournalSeminars in diagnostic pathology (Semin Diagn Pathol) Vol. 32 Issue 5 Pg. 392-9 (Sep 2015) ISSN: 0740-2570 [Print] United States
PMID25766843 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review)
CopyrightCopyright © 2015 Elsevier Inc. All rights reserved.
Chemical References
  • Biomarkers, Tumor
  • Neoplasm Proteins
Topics
  • Biomarkers, Tumor (genetics)
  • Gastrointestinal Neoplasms (chemistry, genetics, pathology)
  • Gastrointestinal Stromal Tumors (chemistry, genetics, pathology)
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Molecular Diagnostic Techniques
  • Mutation
  • Neoplasm Proteins (genetics)
  • Phenotype
  • Predictive Value of Tests
  • Prognosis

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