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@ARTICLE{Deng:148818,
author = {M. Y. Deng$^*$ and M. Sill$^*$ and D. Sturm$^*$ and D.
Stichel$^*$ and H. Witt$^*$ and J. Ecker$^*$ and A.
Wittmann$^*$ and J. Schittenhelm and M. Ebinger and M. U.
Schuhmann and D. Figarella-Branger and E. Aronica and O.
Staszewski and M. Preusser and C. Haberler and M. Lauten and
U. Schüller and C. Hartmann and M. Snuderl and C. Dunham
and N. Jabado and P. Wesseling and M. Deckert and K. Keyvani
and N. Gottardo and F. Giangaspero and K. von Hoff and D. W.
Ellison and T. Pietsch and C. Herold Mende and T. Milde$^*$
and O. Witt$^*$ and M. Kool$^*$ and A. Korshunov$^*$ and W.
Wick$^*$ and A. von Deimling$^*$ and S. M. Pfister$^*$ and
D. T. W. Jones$^*$ and F. Sahm$^*$},
title = {{D}iffuse {G}lioneuronal tumour with
{O}ligodendroglioma-like features and {N}uclear {C}lusters
({DGONC}) - a molecularly-defined glioneuronal {CNS} tumour
class displaying recurrent monosomy 14.},
journal = {Neuropathology $\&$ applied neurobiology},
volume = {46},
number = {5},
issn = {1365-2990},
address = {Oxford [u.a.]},
publisher = {Wiley-Blackwell},
reportid = {DKFZ-2020-00010},
pages = {422-430},
year = {2020},
note = {2020 Aug;46(5):422-430#EA:B360#LA:B300#},
abstract = {DNA methylation-based central nervous system (CNS) tumour
classification has identified numerous molecularly-distinct
tumour types, and clinically relevant subgroups among known
CNS tumour entities that were previously thought to
represent homogeneous diseases. Our study aimed at
characterising a novel, molecularly-defined variant of
glioneuronal CNS tumour.DNA methylation profiling was
performed using the Infinium MethylationEPIC or 450k
BeadChip arrays (Illumina) and analysed using the 'conumee'
package in R computing environment. Additional gene panel
sequencing was also performed. Tumour samples were collected
at the German Cancer Research Centre (DKFZ) and provided by
multi-national collaborators. Histological sections were
also collected and independently reviewed.Genome-wide DNA
methylation data from >25,000 CNS tumours were screened for
clusters separated from established DNA methylation classes,
revealing a novel group comprising 31 tumours, mainly found
in paediatric patients. This DNA methylation-defined variant
of low-grade CNS tumours with glioneuronal differentiation
displays recurrent monosomy 14, nuclear clusters within a
morphology that is otherwise reminiscent of
oligodendroglioma and other established entities with
clear-cell histology, and a lack of genetic alterations
commonly observed in other (paediatric) glioneuronal
entities.DNA methylation-based tumour classification is an
objective method of assessing tumour origins, which may aid
in diagnosis, especially for atypical cases. With increasing
sample size, methylation analysis allows for the
identification of rare, putative new tumour entities, which
are currently not recognized by the WHO classification. Our
study revealed the existence of a DNA methylation-defined
class of low-grade glioneuronal tumours with recurrent
monosomy 14, oligodendroglioma-like features and nuclear
clusters.},
cin = {B360 / B062 / HD01 / B300 / B310 / B320},
ddc = {610},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B300-20160331 /
I:(DE-He78)B310-20160331 / I:(DE-He78)B320-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31867747},
doi = {10.1111/nan.12590},
url = {https://inrepo02.dkfz.de/record/148818},
}