What do we know about IDH1/2 mutations so far, and how do we use it?
- Craig HorbinskiAffiliated withDepartment of Pathology, University of Kentucky Email author
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
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.
KeywordsIDH1/2 2-Hydroxyglutarate Glioma Histone Methylation
- What do we know about IDH1/2 mutations so far, and how do we use it?
Volume 125, Issue 5 , pp 621-636
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- Industry Sectors
- Craig Horbinski (1)
- Author Affiliations
- 1. Department of Pathology, University of Kentucky, 307 Combs Cancer Research Facility, 800 Rose Street, Lexington, KY, 40536, USA