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@ARTICLE{Korshunov:128946,
author = {A. Korshunov$^*$ and D. Capper$^*$ and D. Reuss$^*$ and D.
Schrimpf and M. Ryzhova and V. Hovestadt$^*$ and D.
Sturm$^*$ and J. Meyer and C. Jones and O. Zheludkova and E.
Kumirova and A. Golanov and M. Kool$^*$ and U. Schüller$^*$
and M. Mittelbronn$^*$ and M. Hasselblatt and J.
Schittenhelm and G. Reifenberger$^*$ and C. Herold-Mende$^*$
and P. Lichter$^*$ and A. von Deimling$^*$ and S.
Pfister$^*$ and D. Jones$^*$},
title = {{H}istologically distinct neuroepithelial tumors with
histone 3 {G}34 mutation are molecularly similar and
comprise a single nosologic entity.},
journal = {Acta neuropathologica},
volume = {131},
number = {1},
issn = {1432-0533},
address = {Berlin},
publisher = {Springer},
reportid = {DKFZ-2017-04958},
pages = {137 - 146},
year = {2016},
abstract = {In contrast to the relative morphological uniformity of
histone H3 K27-mutant high-grade gliomas, H3 G34-mutant
tumors present as a histopathologically heterogeneous group
of neoplasms, with microscopic characteristics typical of
either glioblastoma (GBM) or central nervous system
primitive neuroectodermal tumors (CNS-PNET). In the current
study, we performed an integrative clinical,
histopathological and molecular analysis of 81 G34-mutant
CNS tumors. Routinely prepared tumor tissues were
investigated for genomic and epigenomic alterations. Despite
their divergent histopathological appearance, CNS tumors
with H3.3 G34 mutations displayed uniform epigenetic
signatures, suggesting a single biological origin.
Comparative cytogenetic analysis with other GBM subtypes
disclosed a high frequency and high specificity of 3q and 4q
loss across G34-mutant tumors. PDGFRA amplification was more
common in cases with GBM than with PNET morphology (36 vs. 5
$\%,$ respectively), while CCND2 amplifications showed the
opposite trend (5 vs. 27 $\%).$ Survival analysis revealed
the presence of amplified oncogene(s) and MGMT methylation
as independent prognostic markers for poor and favorable
outcomes, respectively. No difference in outcome was found
between morphological variants (GBM vs. PNET). Thus,
different histological variants of G34-mutant CNS tumors
likely comprise a single biological entity (high-grade
glioma with H3 G34 mutation, $HGG_G34),$ which should be
outlined in future diagnostic and therapeutic
classifications. Screening for H3.3 G34 mutation should
therefore be recommended as a routine diagnostic marker for
supratentorial CNS tumors across a broad histological
spectrum.},
keywords = {Histones (NLM Chemicals)},
cin = {B062 / B060 / G380 / L101 / L401 / L501},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)G380-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)L401-20160331 / I:(DE-He78)L501-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:26482474},
doi = {10.1007/s00401-015-1493-1},
url = {https://inrepo02.dkfz.de/record/128946},
}