© Copyright 2009 by the Society for Neuro-Oncology
Received November 21, 2008
Accepted February 23, 2009
IDH1 mutations are present in the majority of common adult gliomas but are rare in primary glioblastomas
Koichi Ichimura 1*,
Danita M. Pearson 2,
Sylvia Kocialkowski 2,
L. Magnus Bäcklund 3,
Raymond Chan 2,
David T.W. Jones 2,
V. Peter Collins 2
1 Molecular Histopathology, Level 3, Lab Block, Addenbrooke’s Hospital, Box 231, Cambridge CB2 0QQ, UK
2 Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Addenbrooke’s Hospital, Cambridge, U.K.
3 Department of Oncology-Pathology, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
* To whom correspondence should be addressed. E-mail: ki212{at}cam.ac.uk.
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Abstract |
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We screened IDH1 exon 4 for mutations in 596 primary intracranial tumors of all major types. Codon 132 mutation was seen in 54% of astrocytomas and 65% of oligodendroglial tumors but only in 6% of glioblastomas (3% of primary and 50% of secondary glioblastoma). There were no mutations in any other type of tumor studied. While TP53 mutations and total 1p/19q deletions were mutually exclusive, IDH1 mutations were strongly correlated with these genetic abnormalities. All 4 types of mutant IDH1 showed decreased enzymatic activity. The data indicate that IDH1 mutation combined with either TP53 mutation or total 1p/19q loss is a frequent and early change in the majority of oligodendroglial tumors, diffuse astrocytomas, anaplastic astrocytomas and secondary glioblastomas but not in primary glioblastomas.
Key Words:
1p/19q loss, astrocytoma, oligodendroglioma, oxidative stress, p53
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