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@ARTICLE{Korshunov:126906,
author = {A. Korshunov$^*$ and M. Ryzhova and V. Hovestadt$^*$ and S.
Bender$^*$ and D. Sturm$^*$ and D. Capper$^*$ and J.
Meyer$^*$ and D. Schrimpf$^*$ and M. Kool$^*$ and P. A.
Northcott$^*$ and O. Zheludkova and T. Milde$^*$ and O.
Witt$^*$ and A. E. Kulozik$^*$ and G. Reifenberger$^*$ and
N. Jabado and A. Perry and P. Lichter$^*$ and A. von
Deimling$^*$ and S. Pfister$^*$ and D. Jones$^*$},
title = {{I}ntegrated analysis of pediatric glioblastoma reveals a
subset of biologically favorable tumors with associated
molecular prognostic markers.},
journal = {Acta neuropathologica},
volume = {129},
number = {5},
issn = {1432-0533},
address = {Berlin},
publisher = {Springer},
reportid = {DKFZ-2017-02934},
pages = {669 - 678},
year = {2015},
abstract = {Pediatric glioblastoma (pedGBM) is amongst the most common
malignant brain tumors of childhood and carries a dismal
prognosis. In contrast to adult GBM, few molecular
prognostic markers for the pediatric counterpart have been
established. We, therefore, investigated the prognostic
significance of genomic and epigenetic alterations through
molecular analysis of 202 pedGBM (1-18 years) with
comprehensive clinical annotation. Routinely prepared
formalin-fixed paraffin-embedded tumor samples were assessed
for genome-wide DNA methylation profiles, with known
candidate genes screened for alterations via direct
sequencing or FISH. Unexpectedly, a subset of histologically
diagnosed GBM (n = 40, 20 $\%)$ displayed methylation
profiles similar to those of either low-grade gliomas or
pleomorphic xanthoastrocytomas (PXA). These tumors showed a
markedly better prognosis, with molecularly PXA-like tumors
frequently harboring BRAF V600E mutations and 9p21 (CDKN2A)
homozygous deletion. The remaining 162 tumors with pedGBM
molecular signatures comprised four subgroups: H3.3
G34-mutant (15 $\%),$ H3.3/H3.1 K27-mutant (43 $\%),$
IDH1-mutant (6 $\%),$ and H3/IDH wild-type (wt) GBM (36
$\%).$ These subgroups were associated with specific
cytogenetic aberrations, MGMT methylation patterns and
clinical outcomes. Analysis of follow-up data identified a
set of biomarkers feasible for use in risk stratification:
pedGBM with any oncogene amplification and/or K27M mutation
(n = 124) represents a particularly unfavorable group, with
3-year overall survival (OS) of 5 $\%,$ whereas tumors
without these markers (n = 38) define a more favorable group
(3-year OS ~70 $\%).Combined$ with the lower grade-like
lesions, almost 40 $\%$ of pedGBM cases had distinct
molecular features associated with a more favorable outcome.
This refined prognostication method for pedGBM using a
molecular risk algorithm may allow for improved therapeutic
choices and better planning of clinical trial stratification
for this otherwise devastating disease.},
keywords = {Biomarkers, Tumor (NLM Chemicals) / Proto-Oncogene Proteins
B-raf (NLM Chemicals)},
cin = {G380 / B060 / B062 / G340 / L101 / L401},
ddc = {610},
cid = {I:(DE-He78)G380-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)G340-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)L401-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25752754},
doi = {10.1007/s00401-015-1405-4},
url = {https://inrepo02.dkfz.de/record/126906},
}