Analysis of the IDH1 codon 132 mutation in brain tumors
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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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
- Licence
- www.springer.com/tdm (tdm)
- 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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