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BioMed Research International
Volume 2014, Article ID 540236, 7 pages
Research Article

IDH Mutations: Genotype-Phenotype Correlation and Prognostic Impact

1Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moëlle épinière (CRICM) UMR-S975, 75013 Paris, France
2INSERM U 975, 75013 Paris, France
3CNRS, UMR 7225, 75013 Paris, France
4Institut du Cerveau et de la Moëlle épinière (ICM), Plateforme de Génotypage Séquençage, 75013 Paris, France
5AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Laboratoire de Neuropathologie R. Escourolle, 75013 Paris, France
6AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Service de Neurologie 2, 75013 Paris, France
7Fédération de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris Cedex 13, France

Received 14 February 2014; Accepted 7 April 2014; Published 30 April 2014

Academic Editor: Emeline Tabouret

Copyright © 2014 Xiao-Wei Wang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.