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@ARTICLE{Capper:136670,
author = {D. Capper$^*$ and D. Stichel$^*$ and F. Sahm$^*$ and D.
Jones$^*$ and D. Schrimpf$^*$ and M. Sill$^*$ and S. Schmid
and V. Hovestadt and D. E. Reuss$^*$ and C. Koelsche$^*$ and
A. Reinhardt$^*$ and A. K. Wefers$^*$ and K. Huang$^*$ and
P. Sievers$^*$ and A. Ebrahimi$^*$ and A. Schöler$^*$ and
D. Teichmann and A. Koch and D. Hänggi and A. Unterberg and
M. Platten$^*$ and W. Wick$^*$ and O. Witt$^*$ and T.
Milde$^*$ and A. Korshunov$^*$ and S. Pfister$^*$ and A. von
Deimling$^*$},
title = {{P}ractical implementation of {DNA} methylation and
copy-number-based {CNS} tumor diagnostics: the {H}eidelberg
experience.},
journal = {Acta neuropathologica},
volume = {136},
number = {2},
issn = {1432-0533},
address = {Berlin},
publisher = {Springer},
reportid = {DKFZ-2018-01138},
pages = {181 - 210},
year = {2018},
abstract = {Recently, we described a machine learning approach for
classification of central nervous system tumors based on the
analysis of genome-wide DNA methylation patterns [6]. Here,
we report on DNA methylation-based central nervous system
(CNS) tumor diagnostics conducted in our institution between
the years 2015 and 2018. In this period, more than 1000
tumors from the neurosurgical departments in Heidelberg and
Mannheim and more than 1000 tumors referred from external
institutions were subjected to DNA methylation analysis for
diagnostic purposes. We describe our current approach to the
integrated diagnosis of CNS tumors with a focus on
constellations with conflicts between morphological and
molecular genetic findings. We further describe the benefit
of integrating DNA copy-number alterations into diagnostic
considerations and provide a catalog of copy-number changes
for individual DNA methylation classes. We also point to
several pitfalls accompanying the diagnostic implementation
of DNA methylation profiling and give practical suggestions
for recurring diagnostic scenarios.},
cin = {G380 / L101 / L201 / G702 / B062 / G160 / G340 / G370},
ddc = {610},
cid = {I:(DE-He78)G380-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)L201-20160331 / I:(DE-He78)G702-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)G160-20160331 /
I:(DE-He78)G340-20160331 / I:(DE-He78)G370-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29967940},
doi = {10.1007/s00401-018-1879-y},
url = {https://inrepo02.dkfz.de/record/136670},
}