Journal Article

DKFZ-2017-05186

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma.

Mackay, A. ; Burford, A. ; Carvalho, D. ; Izquierdo, E. ; Fazal-Salom, J. ; Taylor, K. R. ; Bjerke, L. ; Clarke, M. ; Vinci, M. ; Nandhabalan, M. ; Temelso, S. ; Popov, S. ; Molinari, V. ; Raman, P. ; Waanders, A. J. ; Han, H. J. ; Gupta, S. ; Marshall, L. ; Zacharoulis, S. ; Vaidya, S. ; Mandeville, H. C. ; Bridges, L. R. ; Martin, A. J. ; Al-Sarraj, S. ; Chandler, C. ; Ng, H.-K. ; Li, X. ; Mu, K. ; Trabelsi, S. ; Brahim, D. H. ; Kisljakov, A. N. ; Konovalov, D. M. ; Moore, A. S. ; Carcaboso, A. M. ; Sunol, M. ; de Torres, C. ; Cruz, O. ; Mora, J. ; Shats, L. I. ; Stavale, J. N. ; Bidinotto, L. T. ; Reis, R. M. ; Entz-Werle, N. ; Farrell, M. ; Cryan, J. ; Crimmins, D. ; Caird, J. ; Pears, J. ; Monje, M. ; Debily, M.-A. ; Castel, D. ; Grill, J. ; Hawkins, C. ; Nikbakht, H. ; Jabado, N. ; Baker, S. J. ; Pfister, S.DKFZ* ; Jones, D.DKFZ* ; Fouladi, M. ; von Bueren, A. O. ; Baudis, M. ; Resnick, A. ; Jones, C.

2017
Cell Press Cambridge, Mass.

This record in other databases:  

Please use a persistent id in citations: doi:10.1016/j.ccell.2017.08.017

Abstract: We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of 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.

Keyword(s): BCOR protein, human ; Cell Cycle Proteins ; F-Box Proteins ; Histones ; Proto-Oncogene Proteins ; Repressor Proteins ; Ubiquitin-Protein Ligases ; DNA Topoisomerases, Type I ; DNA topoisomerase III ; FBXW7 protein, human

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Contributing Institute(s):

1. Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2017

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Database coverage:
; BIOSIS Previews ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 20 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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