title: IDH mutations: genotype-phenotype correlation and prognostic impact.
abstract: 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 IDH1(R132H) , IDH1(nonR132H) , and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1(nonR132H) 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.
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Xiao-Wei
authors.initials: XW
authors.lastname: Wang
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Pietro
authors.initials: P
authors.lastname: Ciccarino
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Marta
authors.initials: M
authors.lastname: Rossetto
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Blandine
authors.identifier: 0000-0002-5693-465X
authors.initials: B
authors.lastname: Boisselier
authors.affiliation: Institut du Cerveau et de la Moëlle épinière (ICM), Plateforme de Génotypage Séquençage, 75013 Paris, France.
authors.forename: Yannick
authors.initials: Y
authors.lastname: Marie
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France ; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Laboratoire de Neuropathologie R. Escourolle, 75013 Paris, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Desestret
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Vincent
authors.identifier: 0000-0003-0434-3812
authors.initials: V
authors.lastname: Gleize
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France ; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Laboratoire de Neuropathologie R. Escourolle, 75013 Paris, France.
authors.forename: Karima
authors.initials: K
authors.lastname: Mokhtari
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France ; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Service de Neurologie 2, 75013 Paris, France ; Fédération de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris Cedex 13, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Sanson
authors.affiliation: Université 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 ; INSERM U 975, 75013 Paris, France ; CNRS, UMR 7225, 75013 Paris, France.
authors.forename: Marianne
authors.initials: M
authors.lastname: Labussière
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D005910:Glioma / Q000201:enzymology / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D060787:Neoplasm Grading; D012189:Retrospective Studies; D015996:Survival Rate; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human