title: What do we know about IDH1/2 mutations so far, and how do we use it?
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.
authors.affiliation: Department of Pathology, University of Kentucky, 307 Combs Cancer Research Facility, 800 Rose Street, Lexington, KY 40536, USA. craig.horbinski@uky.edu
authors.forename: Craig
authors.initials: C
authors.lastname: Horbinski
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005910:Glioma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011379:Prognosis
chemical_list: C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human