IDH1 and IDH2 mutations in gliomas

Cohen, Adam L.; Holmen, Sheri L.; Colman, Howard

doi:10.1007/s11910-013-0345-4

Cited by 629Glioma Diagnosis and TreatmentCancer, Hypoxia, and MetabolismAcute Myeloid Leukemia Research

IDH1 and IDH2 mutations in gliomas

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Cohen, Adam L., Holmen, Sheri L., Colman, Howard·2013·Current Neurology and Neuroscience Reports

DOI 10.1007/s11910-013-0345-4PMC PMC4109985

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Abstract

Mutations in isocitrate dehydrogenase (IDH) 1 and 2, originally discovered in 2008, occur in the vast majority of low-grade gliomas and secondary high-grade gliomas. These mutations, which occur early in gliomagenesis, change the function of the enzymes, causing them to produce 2-hydroxyglutarate, a possible oncometabolite, and to not produce NADPH. IDH mutations are oncogenic, although whether the mechanism is through alterations in hydroxylases, redox potential, cellular metabolism, or gene expression is not clear. The mutations also drive increased methylation in gliomas. Gliomas with mutated IDH1 and IDH2 have improved prognosis compared with gliomas with wild-type IDH. Mutated IDH can now be detected by immunohistochemistry and magnetic resonance spectroscopy. No drugs currently target mutated IDH, although this remains an area of active research.

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IDH1 and IDH2 mutations identified in low-grade glioma, chondrosarcoma, cholangiocarcinoma, and AML.
“IDH1 and IDH2 mutations have been identified in low-grade glioma, where they represent a likely initiator lesion, as well as in chondrosarcoma, cholangiocarcinoma, and acute myeloid leukemia (AML) (Balss et al., 2008; Borger et al., 2012; Cohen et al., 2013; Mardis et al., 2009; Parsons et al., 2008; Paschka et al., 2010).”
From The emerging hallmarks of cancer metabolism (2016) · cites this paper as Cohen et al., 2013

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Authors: Cohen, A. L., Holmen, S. L., & Colman, H.
Affiliations: University of Utah (US)
Corresponding author: Colman, Howard
ORCID: Cohen, Adam L.
Holmen, Sheri L.
Colman, Howard
Venue: Current Neurology and Neuroscience Reports
Publisher: Springer Science and Business Media LLC
Published: 2013-03-27
Volume: 13
Issue: 5
Pages: 345-345
ISSN: 1528-4042 (ISSN-L)
1534-6293
DOI: 10.1007/s11910-013-0345-4
PMC: PMC4109985
OpenAlex: W1993605227
Cited by: 629
References: 80
Citations by year: 2026: 24 · 2025: 43 · 2024: 43 · 2023: 45 · 2022: 62 · 2021: 83 · 2020: 64 · 2019: 61 · 2018: 65 · 2017: 64 · 2016: 33 · 2015: 16 · 2014: 16 · 2013: 4
FWCI: 3.19
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Current Neurology and Neuroscience Reports (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Neurological Disorders and Stroke (R01NS075155, R01NS073870)
Topics: Health Sciences › Medicine › Genetics › Glioma Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords: IDH1 mutation, IDH2 mutation, isocitrate dehydrogenase, glioma, 2-hydroxyglutarate, oncometabolites, DNA methylation, gliomagenesis, prognosis, immunohistochemistry, magnetic resonance spectroscopy, IDH inhibitors
MeSH terms: Brain Neoplasms, Glioma, Humans, Isocitrate Dehydrogenase, Mutation

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