Abstract
A recent study identified mutations in the active sites of isocitrate dehydrogenase 1 and 2 (IDH1and IDH2) genes in several types of glioma. All mutations affected a single amino acid located in the binding site of isocitrate (R132 of IDH1 and R172 of IDH2). We analyzed the genomic region spanning wild-type R132 of IDH1 and R172 of IDH2 by direct sequencing in 125 glial tumors. A total of 39 IDH1 mutations and one IDH2 mutation were observed. IDH1 and IDH2 mutations were frequently present in astrocytic and oligodendroglial tumors. However, primary glioblastomas were characterized by a low frequency of mutations (5%) at amino acid position 132 of IDH1. Mutations of IDH1 and IDH2 genes were significantly associated with improved outcome in patients with anaplastic astrocytomas. IDH1 and IDH2 mutations seem to play an important role in early tumor progression of specific types of glioma and might arise from a common glial precursor. The infrequency of IDH1 mutation in primary glioblastomas revealed that these subtypes are entities that are genetically distinct from other glial tumors. Analyses of IDH1 and IDH2 status have significant utility for diagnosis and treatment of patients with gliomas.
Keywords
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Sonoda, Y., Shibahara, I., Saito, R., Kumabe, T., Tominaga, T. (2011). The Role of IDH1 and IDH2 Mutations in Malignant Gliomas. In: Hayat, M. (eds) Tumors of the Central Nervous System, Volume 2. Tumors of the Central Nervous System, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0618-7_6
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DOI: https://doi.org/10.1007/978-94-007-0618-7_6
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