Analysis of IDH1 and IDH2 mutations in Japanese glioma patients.

Full Abstract

A recent study reported on mutations in the active site of the isocitrate dehydrogenase 1 (IDH1) gene in several types of gliomas. All mutations detected resulted in an amino acid exchange at position 132. We analyzed the genomic region spanning wild-type R132 of IDH1 by direct sequencing in 125 glial tumors. A total of 39 IDH1 mutations were observed. Mutations of the IDH2 gene, homologous to IDH1, were often detected in gliomas without IDH1 mutations. In the present study, R172 mutation of the IDH2 gene was detected in one anaplastic astrocytoma. IDH1 or IDH2 mutations were frequently in oligodendrogliomas (67%), anaplastic astrocytomas (62%), anaplastic oligoastrocytomas (75%), anaplastic oligodendrogliomas (50%), secondary glioblastomas (67%), gangliogliomas (38%), and anaplastic gangliogliomas (60%). Primary glioblastomas were characterized by a low frequency of mutations (5%) at amino acid position 132 of IDH1. Mutations of the IDH1 or IDH2 genes were significantly associated with improved outcome in patients with anaplastic astrocytomas. Our data suggest that IDH1 or IDH2 mutation plays a role in early tumor progression of several types of glioma and might arise from a common glial precursor. The infrequency of IDH1 mutation in primary glioblastomas revealed that these subtypes are genetically distinct entities from other glial tumors.

Author information

Author/s: Sonoda, Yukihiko (Y); Kumabe, Toshihiro (T); Nakamura, Taigen (T); Saito, Ryuta (R); Kanamori, Masayuki (M); Yamashita, Yoji (Y); Suzuki, Hiroyoshi (H); Tominaga, Teiji (T);

Affiliation: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan. sono(-atsign-)nsg.med.tohoku.ac.jp

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Cancer science (Cancer Sci), published in England. (Language: eng)

Reference: 2009-Oct; vol 100 (issue 10) : pp 1996-8

Dates: Created 2009/09/21; Completed 2009/10/09;

PMID: 19765000, status: MEDLINE (last retrieval date: 10/9/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Asian Continental Ancestry Group
Base Sequence
Brain Neoplasms - genetics; mortality
DNA Mutational Analysis
Disease Progression
Female
Glioma - genetics; mortality
Humans

Humans
Isocitrate Dehydrogenase - genetics
Kaplan-Meiers Estimate
Male
Middle Aged
Mutation
Polymerase Chain Reaction
Prognosis
Tumor Markers, Biological - genetics

Associated Chemicals: Tumor Markers, Biological (0) ; Isocitrate Dehydrogenase (EC 1.1.1.41) ; isocitrate dehydrogenase 2, human (EC 1.1.1.41) ; IDH1 protein, human (EC 1.1.1.42.)

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