Journal
NEUROSURGICAL FOCUS
Volume 34, Issue 2, Pages -Publisher
AMER ASSOC NEUROLOGICAL SURGEONS
DOI: 10.3171/2012.12.FOCUS12355
Keywords
isocitrate dehydrogenase 1; isocitrate dehydrogenase 2; glioblastoma; low-grade glioma; magnetic resonance spectroscopy
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Funding
- Buroughs-Wellcome Fund Career Award
- American Brain Tumor Association
- NIH NINDS [R25]
- KL2 Medical Research Investigator Training (MeRIT) award from the Harvard Catalyst-The Harvard Clinical and Translational Science Center (National Center for Research Resources)
- National Center for Advancing Translational Sciences, NIH Award [8KL2TR000168-05]
- National Institute of Biomedical Imaging and Bioengineering (NIBIB) of the NIH
- NIH Shared Instrumentation Grant Program [S10RR021110]
- NIH High-End Instrumentation Grant Program [S10RR021110]
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The characterization of the genomic alterations across all human cancers is changing the way that malignant disease is defined and treated. This paradigm is extending to glioma, where the discovery of recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) gene has shed new light on the molecular landscape in glioma and other IDH-mutant cancers. The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas. Rapidly emerging work on the consequences of mutant IDH1 protein expression suggests that its neomorphic enzymatic activity catalyzing the production of the oncometabolite 2-hydroxyglutarate influences a range of cellular programs that affect the epigenome, transcriptional programs, hypoxia-inducible factor biology, and development. In the brief time since its discovery, knowledge of the IDH mutation status has had significant translational implications, and diagnostic tools are being used to monitor its expression and function. The concept of IDH1-mutant versus IDH1-wild type will become a critical early distinction in diagnostic and treatment algorithms. (http://thejns.org/doi/abs/10.3171/2012.12.FOCUS12355)
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