IDH1/2 mutation detection in gliomas

Brain Tumor Pathol. 2015 Apr;32(2):79-89. doi: 10.1007/s10014-014-0197-x. Epub 2014 Jul 10.

Abstract

Somatic mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) are strongly associated with pathological subtypes, genetic profiles, and clinical features in gliomas. The IDH1/2 status is currently regarded as one of the most important molecular markers in gliomas and should be assessed accurately and robustly. However, the methods used for IDH1/2 testing are not fully standardized. The purpose of this paper is to review the clinical significance of IDH1/2 mutations and the methods used for IDH1/2 testing. The optimal method for IDH1/2 testing varies depending on a number of factors, including the purpose, sample types, sample number, or laboratory equipment. It is therefore important to acknowledge the advantages and disadvantages of each method.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epigenesis, Genetic / genetics*
  • Genetic Association Studies / methods*
  • Genetic Markers / genetics*
  • Genetic Testing / methods
  • Glioma / genetics*
  • Glioma / pathology
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Mutation*
  • Prognosis
  • Sequence Analysis / methods

Substances

  • Genetic Markers
  • IDH2 protein, human
  • Isocitrate Dehydrogenase
  • IDH1 protein, human