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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},
}