K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

Autor:	Nada Jabado, Eric Bouffet, Andrey Korshunov, Jacek Majewski, David T.W. Jones, Alexandre Montpetit, Marcel Kool, Patricia Rakopoulos, Andreas von Deimling, Jeremy Schwartzentruber, Peter Lichter, Geneviève Bourret, Dong Anh Khuong-Quang, Steffen Albrecht, Guillaume Bourque, Damien Faury, Ute Bartels, Adam Fleming, Pierre Lepage, Louis Letourneau, Mathieu Bourgey, Cynthia Hawkins, Adam M. Fontebasso, Dominik Sturm, Stefan M. Pfister, Xiaoyang Liu, Pawel Buczkowicz
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	Oncology Male medicine.medical_specialty IDH1 Survival Adolescent medicine.medical_treatment Clinical Neurology PDGFRA H3.3 Biology Bioinformatics medicine.disease_cause Targeted therapy Pathology and Forensic Medicine Histones 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Internal medicine Glioma Pons medicine Brain Stem Neoplasms Humans TP53 Child Survival rate ATRX H3 K27M Mutation Mutation Original Paper Gene Expression Profiling Infant medicine.disease Prognosis 3. Good health Survival Rate 030220 oncology & carcinogenesis Child Preschool DIPG Female Neurology (clinical) 030217 neurology & neurosurgery
Zdroj:	Acta Neuropathologica
ISSN:	1432-0533 0001-6322
Popis:	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
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::113510afcf91a2b872a3b23cb1043195 http://europepmc.org/articles/PMC3422615 Zobrazit plný text záznamu Full text from SpringerLink