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@ARTICLE{Mackay:129181,
author = {A. Mackay and A. Burford and D. Carvalho and E. Izquierdo
and J. Fazal-Salom and K. R. Taylor and L. Bjerke and M.
Clarke and M. Vinci and M. Nandhabalan and S. Temelso and S.
Popov and V. Molinari and P. Raman and A. J. Waanders and H.
J. Han and S. Gupta and L. Marshall and S. Zacharoulis and
S. Vaidya and H. C. Mandeville and L. R. Bridges and A. J.
Martin and S. Al-Sarraj and C. Chandler and H.-K. Ng and X.
Li and K. Mu and S. Trabelsi and D. H. Brahim and A. N.
Kisljakov and D. M. Konovalov and A. S. Moore and A. M.
Carcaboso and M. Sunol and C. de Torres and O. Cruz and J.
Mora and L. I. Shats and J. N. Stavale and L. T. Bidinotto
and R. M. Reis and N. Entz-Werle and M. Farrell and J. Cryan
and D. Crimmins and J. Caird and J. Pears and M. Monje and
M.-A. Debily and D. Castel and J. Grill and C. Hawkins and
H. Nikbakht and N. Jabado and S. J. Baker and S. Pfister$^*$
and D. Jones$^*$ and M. Fouladi and A. O. von Bueren and M.
Baudis and A. Resnick and C. Jones},
title = {{I}ntegrated {M}olecular {M}eta-{A}nalysis of 1,000
{P}ediatric {H}igh-{G}rade and {D}iffuse {I}ntrinsic
{P}ontine {G}lioma.},
journal = {Cancer cell},
volume = {32},
number = {4},
issn = {1535-6108},
address = {Cambridge, Mass.},
publisher = {Cell Press},
reportid = {DKFZ-2017-05186},
pages = {520 - 537.e5},
year = {2017},
abstract = {We collated data from 157 unpublished cases of pediatric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.},
keywords = {BCOR protein, human (NLM Chemicals) / Cell Cycle Proteins
(NLM Chemicals) / F-Box Proteins (NLM Chemicals) / Histones
(NLM Chemicals) / Proto-Oncogene Proteins (NLM Chemicals) /
Repressor Proteins (NLM Chemicals) / Ubiquitin-Protein
Ligases (NLM Chemicals) / DNA Topoisomerases, Type I (NLM
Chemicals) / DNA topoisomerase III (NLM Chemicals) / FBXW7
protein, human (NLM Chemicals)},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:28966033},
pmc = {pmc:PMC5637314},
doi = {10.1016/j.ccell.2017.08.017},
url = {https://inrepo02.dkfz.de/record/129181},
}