IDH Mutations : Genotype-Phenotype Correlation and Prognostic Impact

IDH1/2 mutation is the most frequent genomic alteration found in gliomas, affecting 40% of these tumors and is one of the earliest alterations occurring in gliomagenesis. We investigated a series of 1305 gliomas and showed that IDH mutation is almost constant in 1p19q codeleted tumors. We found that...

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Bibliographic Details
Published in:BioMed research international 2014-01, Vol.2014 (2014), p.1-7
Main Authors: Wang, Xiao-Wei, Ciccarino, Pietro, Rossetto, Marta, Boisselier, Blandine, Marie, Yannick, Desestret, Virginie, Gleize, Vincent, Mokhtari, Karima, Sanson, Marc, Labussière, Marianne
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Aged
Aged, 80 and over
Brain cancer
Chromosomes, Human, Pair 1 - genetics
Classification
Deoxyribonucleic acid
Disease-Free Survival
DNA
DNA methylation
Female
Genetic aspects
Genotype
Genotype & phenotype
Glioma - enzymology
Glioma - genetics
Glioma - mortality
Glioma - pathology
Gliomas
Health aspects
Humans
Isocitrate dehydrogenase
Isocitrate Dehydrogenase - genetics
Male
Medical prognosis
Middle Aged
Multivariate analysis
Mutation
Mutation (Biology)
Neoplasm Grading
Phenotype
Retrospective Studies
Survival Rate
Tumor Suppressor Protein p53 - genetics
Tumors
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Summary:IDH1/2 mutation is the most frequent genomic alteration found in gliomas, affecting 40% of these tumors and is one of the earliest alterations occurring in gliomagenesis. We investigated a series of 1305 gliomas and showed that IDH mutation is almost constant in 1p19q codeleted tumors. We found that the distribution of IDH1R132H, IDH1nonR132H, and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1nonR132H in astrocytic tumors. We stratified grade II and grade III gliomas according to the codeletion of 1p19q and IDH mutation to define three distinct prognostic subgroups: 1p19q and IDH mutated, IDH mutated—which contains mostly TP53 mutated tumors, and none of these alterations. We confirmed that IDH mutation with a hazard ratio = 0.358 is an independent prognostic factor of good outcome. These data refine current knowledge on IDH mutation prognostic impact and genotype-phenotype associations.
ISSN:2314-6133
2314-6141
DOI:10.1155/2014/540236