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Acta Neuropathologica
Published in: Acta Neuropathologica 5/2013

01-05-2013 | Review

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

Author: Craig Horbinski

Published in: Acta Neuropathologica | Issue 5/2013

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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.
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Metadata
Title
What do we know about IDH1/2 mutations so far, and how do we use it?
Author
Craig Horbinski
Publication date
01-05-2013
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 5/2013
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-013-1106-9

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