作者
Dong-Anh Khuong-Quang, Pawel Buczkowicz, Patricia Rakopoulos, Xiao-Yang Liu, Adam M Fontebasso, Eric Bouffet, Ute Bartels, Steffen Albrecht, Jeremy Schwartzentruber, Louis Letourneau, Mathieu Bourgey, Guillaume Bourque, Alexandre Montpetit, Genevieve Bourret, Pierre Lepage, Adam Fleming, Peter Lichter, Marcel Kool, Andreas Von Deimling, Dominik Sturm, Andrey Korshunov, Damien Faury, David T Jones, Jacek Majewski, Stefan M Pfister, Nada Jabado, Cynthia Hawkins
发表日期
2012/9
期刊
Acta neuropathologica
卷号
124
页码范围
439-447
出版商
Springer-Verlag
简介
Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated clinical and biological impacts of histone H3.3 mutations. Forty-two DIPGs were tested for H3.3 mutations. Wild-type versus mutated (K27M-H3.3) subgroups were compared for HIST1H3B, IDH, ATRX and TP53 mutations, copy number alterations and clinical outcome. K27M-H3.3 occurred in 71 %, TP53 mutations in 77 % and ATRX mutations in 9 % of DIPGs. ATRX mutations were more frequent in older children (p < 0.0001). No G34V/R-H3.3, IDH1/2 or H3.1 mutations were identified. K27M-H3.3 DIPGs showed specific copy number changes, including all gains/amplifications of PDGFRA and MYC/PVT1 loci. Notably, all long-term survivors were H3.3 wild type and this group of patients had better overall survival. K27M-H3.3 mutation defines clinically …
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DA Khuong-Quang, P Buczkowicz, P Rakopoulos… - Acta neuropathologica, 2012
