Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/48958

TitleIntegrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma
Author(s)Mackay, Alan
Burford, Anna
Carvalho, Diana
Izquierdo, Elisa
Fazal-Salom, Janat
Taylor, Kathryn R.
Bjerke, Lynn
Clarke, Matthew
Vinci, Mara
Reis, R. M.
KeywordsDIPG
exome
genome
glioblastoma
histone
methylation
Issue date28-Sep-2017
PublisherElsevier
JournalCancer Cell
Abstract(s)We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of > 1,000 cases. We identified co-segregating mutations in histone-mutant subgroups including loss of FBXW7 in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H3.1K27M. Histone wild-type subgroups are refined by the presence of key oncogenic events or methylation profiles more closely resembling lower-grade tumors. Genomic aberrations increase with age, highlighting the infant population as biologically and clinically distinct. Uncommon pathway dysregulation is seen in small subsets of tumors, further defining the molecular diversity of the disease, opening up avenues for biological study and providing a basis for functionally defined future treatment stratification.
TypeArticle
URIhttp://hdl.handle.net/1822/48958
DOI10.1016/j.ccell.2017.08.017
ISSN1535-6108
e-ISSN1878-3686
Publisher versionhttp://www.cell.com/cancer-cell/comments/S1535-6108
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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