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@ARTICLE{Koelsche:126891,
author = {C. Koelsche$^*$ and V. Hovestadt$^*$ and D. Jones$^*$ and
D. Capper and D. Sturm$^*$ and F. Sahm$^*$ and D.
Schrimpf$^*$ and S. Adeberg$^*$ and K. Böhmer and C.
Hagenlocher$^*$ and G. Mechtersheimer and P. Kohlhof and H.
Mühleisen and R. Beschorner and C. Hartmann and A. K.
Braczynski and M. Mittelbronn and R. Buslei and A. Becker
and A. Grote and H. Urbach and O. Staszewski and M. Prinz
and E. Hewer and S. Pfister$^*$ and A. von Deimling$^*$ and
D. E. Reuss$^*$},
title = {{M}elanotic tumors of the nervous system are characterized
by distinct mutational, chromosomal and epigenomic
profiles.},
journal = {Brain pathology},
volume = {25},
number = {2},
issn = {1015-6305},
address = {Oxford},
publisher = {Wiley-Blackwell},
reportid = {DKFZ-2017-02919},
pages = {202 - 208},
year = {2015},
abstract = {Melanotic tumors of the nervous system show overlapping
histological characteristics but differ substantially in
their biological behavior. In order to achieve a better
delineation of such tumors, we performed an in-depth
molecular characterization. Eighteen melanocytomas, 12
melanomas, and 14 melanotic and 14 conventional schwannomas
(control group) were investigated for methylome patterns
(450k array), gene mutations associated with melanotic
tumors and copy number variants (CNVs). The methylome
fingerprints assigned tumors to entity-specific groups.
Methylation groups also showed a substantial overlap with
histology-based diagnosis suggesting that they represent
true biological entities. On the molecular level, melanotic
schwannomas were characterized by a complex karyotype with
recurrent monosomy of chromosome 22q and variable whole
chromosomal gains and recurrent losses commonly involving
chromosomes 1, 17p and 21. Melanocytomas carried GNAQ/11
mutations and presented with CNV involving chromosomes 3 and
6. Melanomas were frequently mutated in the TERT promoter,
harbored additional oncogene mutations and showed recurrent
chromosomal losses involving chromosomes 9, 10 and 6q, as
well as gains of 22q. Together, melanotic nervous system
tumors have several distinct mutational and chromosomal
alterations and can reliably be distinguished by methylome
profiling.},
cin = {G380 / B060 / B062 / L101 / L501},
ddc = {610},
cid = {I:(DE-He78)G380-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)L501-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25399693},
doi = {10.1111/bpa.12228},
url = {https://inrepo02.dkfz.de/record/126891},
}