What do we know about IDH1/2 mutations so far, and how do we use it?

Craig Horbinski*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

105 Scopus citations


Whole genome analyses have facilitated the discovery of clinically relevant genetic alterations in a variety of diseases, most notably cancer. A prominent example of this was the discovery of mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) in a sizeable proportion of gliomas and some other neoplasms. Herein the normal functions of these enzymes, how the mutations alter their catalytic properties, the effects of their D-2-hydroxyglutarate metabolite, technical considerations in diagnostic neuropathology, implications about prognosis and therapeutic considerations, and practical applications and controversies regarding IDH1/2 mutation testing are discussed.

Original languageEnglish (US)
Pages (from-to)621-636
Number of pages16
JournalActa Neuropathologica
Issue number5
StatePublished - May 2013


  • Glioma
  • Histone
  • IDH1/2 2-hydroxyglutarate
  • Methylation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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