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

Acta Neuropathol. 2013 May;125(5):621-36. doi: 10.1007/s00401-013-1106-9. Epub 2013 Mar 20.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / therapy
  • Glioma / diagnosis
  • Glioma / genetics*
  • Glioma / therapy
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Mutation / genetics*
  • Prognosis

Substances

  • Isocitrate Dehydrogenase
  • isocitrate dehydrogenase 2, human
  • IDH1 protein, human