% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Rhrich:130427,
      author       = {M. Röhrich$^*$ and C. Koelsche$^*$ and D. Schrimpf$^*$ and
                      D. Capper$^*$ and F. Sahm$^*$ and A. Kratz$^*$ and J.
                      Reuss$^*$ and V. Hovestadt$^*$ and D. Jones$^*$ and M.
                      Bewerunge-Hudler$^*$ and A. Becker and J. Weis and C. Mawrin
                      and M. Mittelbronn$^*$ and A. Perry and V.-F. Mautner and G.
                      Mechtersheimer and C. Hartmann and A. F. Okuducu and M. Arp
                      and M. Seiz-Rosenhagen and D. Hänggi and S. Heim and W.
                      Paulus and J. Schittenhelm and R. Ahmadi and C. Herold-Mende
                      and A. Unterberg and S. Pfister$^*$ and A. von Deimling$^*$
                      and D. E. Reuss$^*$},
      title        = {{M}ethylation-based classification of benign and malignant
                      peripheral nerve sheath tumors.},
      journal      = {Acta neuropathologica},
      volume       = {131},
      number       = {6},
      issn         = {1432-0533},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2017-05506},
      pages        = {877 - 887},
      year         = {2016},
      abstract     = {The vast majority of peripheral nerve sheath tumors derive
                      from the Schwann cell lineage and comprise diverse
                      histological entities ranging from benign schwannomas and
                      neurofibromas to high-grade malignant peripheral nerve
                      sheath tumors (MPNST), each with several variants. There is
                      increasing evidence for methylation profiling being able to
                      delineate biologically relevant tumor groups even within the
                      same cellular lineage. Therefore, we used DNA methylation
                      arrays for methylome- and chromosomal profile-based
                      characterization of 171 peripheral nerve sheath tumors. We
                      analyzed 28 conventional high-grade MPNST, three malignant
                      Triton tumors, six low-grade MPNST, four epithelioid MPNST,
                      33 neurofibromas (15 dermal, 8 intraneural, 10 plexiform),
                      six atypical neurofibromas, 43 schwannomas (including 5 NF2
                      and 5 schwannomatosis associated cases), 11 cellular
                      schwannomas, 10 melanotic schwannomas, 7
                      neurofibroma/schwannoma hybrid tumors, 10 nerve sheath
                      myxomas and 10 ganglioneuromas. Schwannomas formed different
                      epigenomic subgroups including a vestibular schwannoma
                      subgroup. Cellular schwannomas were not distinct from
                      conventional schwannomas. Nerve sheath myxomas and
                      neurofibroma/schwannoma hybrid tumors were most similar to
                      schwannomas. Dermal, intraneural and plexiform neurofibromas
                      as well as ganglioneuromas all showed distinct methylation
                      profiles. Atypical neurofibromas and low-grade MPNST were
                      indistinguishable with a common methylation profile and
                      frequent losses of CDKN2A. Epigenomic analysis finds two
                      groups of conventional high-grade MPNST sharing a frequent
                      loss of neurofibromin. The larger of the two groups shows an
                      additional loss of trimethylation of histone H3 at lysine 27
                      (H3K27me3). The smaller one retains H3K27me3 and is found in
                      spinal locations. Sporadic MPNST with retained neurofibromin
                      expression did not form an epigenetic group and most cases
                      could be reclassified as cellular schwannomas or soft tissue
                      sarcomas. Widespread immunohistochemical loss of H3K27me3
                      was exclusively seen in MPNST of the main methylation
                      cluster, which defines it as an additional useful marker for
                      the differentiation of cellular schwannoma and MPNST.},
      keywords     = {Neurofibromin 1 (NLM Chemicals)},
      cin          = {E055 / G380 / B060 / B062 / W110 / L501 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)E055-20160331 / I:(DE-He78)G380-20160331 /
                      I:(DE-He78)B060-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)W110-20160331 / I:(DE-He78)L501-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26857854},
      doi          = {10.1007/s00401-016-1540-6},
      url          = {https://inrepo02.dkfz.de/record/130427},
}