标题:Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
作者:Mackay, Alan; Burford, Anna; Carvalho, Diana; Izquierdo, Elisa; Fazal-Salom, Janat; Taylor, Kathryn R.; Bjerke, Lynn; Clarke, Matthew; 更多
作者机构:[Mackay, Alan; Burford, Anna; Carvalho, Diana; Izquierdo, Elisa; Fazal-Salom, Janat; Taylor, Kathryn R.; Bjerke, Lynn; Clarke, Matthew; Vinci, Mara; N 更多
通讯作者:Jones, C;Jones, C
通讯作者地址:[Jones, C]Inst Canc Res, Div Mol Pathol, London, England;[Jones, C]Inst Canc Res, Div Canc Therapeut, London, England.
来源:CANCER CELL
出版年:2017
卷:32
期:4
页码:520-+
DOI:10.1016/j.ccell.2017.08.017
摘要:We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of 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.
收录类别:SCOPUS;SCIE
WOS核心被引频次:20
Scopus被引频次:18
资源类型:期刊论文
原文链接:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030706440&doi=10.1016%2fj.ccell.2017.08.017&partnerID=40&md5=ddd640eed7c61d395092d587819d70ab
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