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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},
}