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

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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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Acknowledgments

CH was supported by National Cancer Institute K08 CA155764-01A1, National Institute of General Medical Sciences 2P20 RR020171, and the University of Kentucky College of Medicine Physician Scientist Program.

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    Craig Horbinski

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Horbinski, C. What do we know about IDH1/2 mutations so far, and how do we use it?. Acta Neuropathol 125, 621–636 (2013). https://doi.org/10.1007/s00401-013-1106-9

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