Cited by 1,036Glioma Diagnosis and TreatmentCancer Genomics and DiagnosticsAcute Myeloid Leukemia Research

Analysis of the IDH1 codon 132 mutation in brain tumors

Balss, Jörg, Meyer, Jochen, Mueller, Wolf, Korshunov, Andrey, Hartmann, Christian, von Deimling, Andreas·2008·Acta Neuropathologica

Abstract

A recent study reported on mutations in the active site of the isocitrate dehydrogenase (IDH1) gene in 12% of glioblastomas. All mutations detected resulted in an amino acid exchange in position 132. We analyzed the genomic region spanning wild type R132 of IDH1 by direct sequencing in 685 brain tumors including 41 pilocytic astrocytomas, 12 subependymal giant cell astrocytomas, 7 pleomorphic xanthoastrocytomas, 93 diffuse astrocytomas, 120 adult glioblastomas, 14 pediatric glioblastomas, 105 oligodendrogliomas, 83 oligoastrocytomas, 31 ependymomas, 58 medulloblastomas, 9 supratentorial primitive neuroectodermal tumors, 17 schwannomas, 72 meningiomas and 23 pituitary adenomas. A total of 221 somatic IDH1 mutations were detected and the highest frequencies occurred in diffuse astrocytomas (68%), oligodendrogliomas (69%), oligoastrocytomas (78%) and secondary glioblastomas (88%). Primary glioblastomas and other entities were characterized by a low frequency or absence of mutations in amino acid position 132 of IDH1. The very high frequency of IDH1 mutations in WHO grade II astrocytic and oligodendroglial gliomas suggests a role in early tumor development.

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Crossref · 10.1007/s00401-008-0455-2

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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 Balss et al., 2008

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Authors
Balss, J., Meyer, J., Mueller, W., Korshunov, A., Hartmann, C., & von Deimling, A.
Affiliations
  • German Cancer Research Center (DE)
  • Heidelberg University (DE)
Venue
Acta Neuropathologica
Published
2008-11-05
Volume
116
Issue
6
Pages
597-602
ISSN
  • 0001-6322 (ISSN-L)
  • 1432-0533
OpenAlex
W2120963683
Cited by
1,036
References
17
Citations by year
2026: 13 · 2025: 19 · 2024: 33 · 2023: 43 · 2022: 40 · 2021: 57 · 2020: 65 · 2019: 45 · 2018: 61 · 2017: 65 · 2016: 54 · 2015: 79 · 2014: 81 · 2013: 79 · 2012: 91
FWCI
31.74
Type
journal article
Language
en
Open access
closed
Locations
  • Acta Neuropathologica (publishedVersion)
  • PubMed (publishedVersion)
Funders
Bundesministerium für Bildung und Forschung
Topics
  • Health Sciences › Medicine › Genetics › Glioma Diagnosis and Treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords
IDH1 mutation, isocitrate dehydrogenase, brain tumors, glioblastoma, diffuse astrocytoma, oligodendroglioma, oligoastrocytoma, pilocytic astrocytoma, subependymal giant cell astrocytoma, pleomorphic xanthoastrocytoma, secondary glioblastoma, carcinogenesis, somatic mutations
MeSH terms
Astrocytoma, Base Sequence, Brain Neoplasms, DNA Mutational Analysis, Gene Frequency, Glioblastoma, Glioma, Humans, Isocitrate Dehydrogenase, Mutation, Oligodendroglioma, Polymerase Chain Reaction, Disease Progression

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