TY  - JOUR
AU  - Mackay, Alan
AU  - Burford, Anna
AU  - Carvalho, Diana
AU  - Izquierdo, Elisa
AU  - Fazal-Salom, Janat
AU  - Taylor, Kathryn R
AU  - Bjerke, Lynn
AU  - Clarke, Matthew
AU  - Vinci, Mara
AU  - Nandhabalan, Meera
AU  - Temelso, Sara
AU  - Popov, Sergey
AU  - Molinari, Valeria
AU  - Raman, Pichai
AU  - Waanders, Angela J
AU  - Han, Harry J
AU  - Gupta, Saumya
AU  - Marshall, Lynley
AU  - Zacharoulis, Stergios
AU  - Vaidya, Sucheta
AU  - Mandeville, Henry C
AU  - Bridges, Leslie R
AU  - Martin, Andrew J
AU  - Al-Sarraj, Safa
AU  - Chandler, Christopher
AU  - Ng, Ho-Keung
AU  - Li, Xingang
AU  - Mu, Kun
AU  - Trabelsi, Saoussen
AU  - Brahim, Dorra H'mida-Ben
AU  - Kisljakov, Alexei N
AU  - Konovalov, Dmitry M
AU  - Moore, Andrew S
AU  - Carcaboso, Angel Montero
AU  - Sunol, Mariona
AU  - de Torres, Carmen
AU  - Cruz, Ofelia
AU  - Mora, Jaume
AU  - Shats, Ludmila I
AU  - Stavale, João N
AU  - Bidinotto, Lucas T
AU  - Reis, Rui M
AU  - Entz-Werle, Natacha
AU  - Farrell, Michael
AU  - Cryan, Jane
AU  - Crimmins, Darach
AU  - Caird, John
AU  - Pears, Jane
AU  - Monje, Michelle
AU  - Debily, Marie-Anne
AU  - Castel, David
AU  - Grill, Jacques
AU  - Hawkins, Cynthia
AU  - Nikbakht, Hamid
AU  - Jabado, Nada
AU  - Baker, Suzanne J
AU  - Pfister, Stefan
AU  - Jones, David
AU  - Fouladi, Maryam
AU  - von Bueren, André O
AU  - Baudis, Michael
AU  - Resnick, Adam
AU  - Jones, Chris
TI  - Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma.
JO  - Cancer cell
VL  - 32
IS  - 4
SN  - 1535-6108
CY  - Cambridge, Mass.
PB  - Cell Press
M1  - DKFZ-2017-05186
SP  - 520 - 537.e5
PY  - 2017
AB  - We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of 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.
KW  - BCOR protein, human (NLM Chemicals)
KW  - Cell Cycle Proteins (NLM Chemicals)
KW  - F-Box Proteins (NLM Chemicals)
KW  - Histones (NLM Chemicals)
KW  - Proto-Oncogene Proteins (NLM Chemicals)
KW  - Repressor Proteins (NLM Chemicals)
KW  - Ubiquitin-Protein Ligases (NLM Chemicals)
KW  - DNA Topoisomerases, Type I (NLM Chemicals)
KW  - DNA topoisomerase III (NLM Chemicals)
KW  - FBXW7 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:28966033
C2  - pmc:PMC5637314
DO  - DOI:10.1016/j.ccell.2017.08.017
UR  - https://inrepo02.dkfz.de/record/129181
ER  -