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@ARTICLE{Heim:128731,
author = {S. Heim and M. Sill$^*$ and D. Jones$^*$ and A. Vasiljevic
and A. Jouvet and M. Fèvre-Montange and P. Wesseling and R.
Beschorner and M. Mittelbronn and P. Kohlhof and V.
Hovestadt$^*$ and P. Johann$^*$ and M. Kool$^*$ and K.
Pajtler$^*$ and A. Korshunov$^*$ and V. Ruland and J.
Sperveslage and C. Thomas and H. Witt$^*$ and A. von
Deimling$^*$ and W. Paulus and S. Pfister$^*$ and D.
Capper$^*$ and M. Hasselblatt},
title = {{P}apillary {T}umor of the {P}ineal {R}egion: {A}
{D}istinct {M}olecular {E}ntity.},
journal = {Brain pathology},
volume = {26},
number = {2},
issn = {1015-6305},
address = {Oxford},
publisher = {Wiley-Blackwell},
reportid = {DKFZ-2017-04746},
pages = {199 - 205},
year = {2016},
abstract = {Papillary tumor of the pineal region (PTPR) is a
neuroepithelial brain tumor, which might pose diagnostic
difficulties and recurs often. Little is known about
underlying molecular alterations. We therefore investigated
chromosomal copy number alterations, DNA methylation
patterns and mRNA expression profiles in a series of 24
PTPRs. Losses of chromosome 10 were identified in all 13
PTPRs examined. Losses of chromosomes 3 and 22q $(54\%)$ as
well as gains of chromosomes 8p $(62\%)$ and 12 $(46\%)$
were also common. DNA methylation profiling using Illumina
450k arrays reliably distinguished PTPR from ependymomas and
pineal parenchymal tumors of intermediate differentiation.
PTPR could be divided into two subgroups based on
methylation pattern, PTPR group 2 showing higher global
methylation and a tendency toward shorter progression-free
survival (P = 0.06). Genes overexpressed in PTPR as
compared with ependymal tumors included SPDEF, known to be
expressed in the rodent subcommissural organ. Notable SPDEF
protein expression was encountered in 15/19 PTPRs as
compared with only 2/36 ependymal tumors, 2/19 choroid
plexus tumors and 0/23 samples of other central nervous
system (CNS) tumor entities. In conclusion, PTPRs show
typical chromosomal alterations as well as distinct DNA
methylation and expression profiles, which might serve as
useful diagnostic tools.},
keywords = {RNA, Messenger (NLM Chemicals)},
cin = {C060 / B062 / B060 / G380 / L101 / L501},
ddc = {610},
cid = {I:(DE-He78)C060-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)G380-20160331 /
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:26113311},
doi = {10.1111/bpa.12282},
url = {https://inrepo02.dkfz.de/record/128731},
}