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@ARTICLE{Sievers:136812,
      author       = {P. Sievers$^*$ and D. Stichel$^*$ and D. Schrimpf$^*$ and
                      F. Sahm$^*$ and C. Koelsche$^*$ and D. E. Reuss$^*$ and A.
                      K. Wefers$^*$ and A. Reinhardt$^*$ and K. Huang$^*$ and A.
                      Ebrahimi$^*$ and Y. Hou and K. Pajtler$^*$ and S.
                      Pfister$^*$ and M. Hasselblatt and W. Stummer and U. Schick
                      and C. Hartmann and C. Hagel and O. Staszewski and G.
                      Reifenberger$^*$ and R. Beschorner and R. Coras and K.
                      Keyvani and P. Kohlhof and F. Diomedi-Camassei and C.
                      Herold-Mende and F. Giangaspero and E. Rushing and C.
                      Giannini and A. Korshunov$^*$ and D. Jones$^*$ and A. von
                      Deimling$^*$},
      title        = {{FGFR}1:{TACC}1 fusion is a frequent event in molecularly
                      defined extraventricular neurocytoma.},
      journal      = {Acta neuropathologica},
      volume       = {136},
      number       = {2},
      issn         = {1432-0533},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2018-01250},
      pages        = {293 - 302},
      year         = {2018},
      abstract     = {Extraventricular neurocytoma (EVN) is a rare primary brain
                      tumor occurring in brain parenchyma outside the ventricular
                      system. Histopathological characteristics resemble those of
                      central neurocytoma but exhibit a wider morphologic
                      spectrum. Accurate diagnosis of these histologically
                      heterogeneous tumors is often challenging because of the
                      overlapping morphological features and the lack of defining
                      molecular markers. Here, we explored the molecular landscape
                      of 40 tumors diagnosed histologically as EVN by
                      investigating copy number profiles and DNA methylation array
                      data. DNA methylation profiles were compared with those of
                      relevant differential diagnoses of EVN and with a broader
                      spectrum of diverse brain tumor entities. Based on this, our
                      tumor cohort segregated into different groups. While a large
                      fraction (n = 22) formed a separate epigenetic group
                      clearly distinct from established DNA methylation profiles
                      of other entities, a subset (n = 14) of histologically
                      diagnosed EVN grouped with clusters of other defined
                      entities. Three cases formed a small group close to but
                      separated from the epigenetically distinct EVN cases, and
                      one sample clustered with non-neoplastic brain tissue. Four
                      additional samples originally diagnosed otherwise were found
                      to molecularly resemble EVN. Thus, our results highlight a
                      distinct DNA methylation pattern for the majority of tumors
                      diagnosed as EVN, but also indicate that approximately
                      one third of morphological diagnoses of EVN epigenetically
                      correspond to other brain tumor entities. Copy number
                      analysis and confirmation through RNA sequencing revealed
                      FGFR1-TACC1 fusion as a distinctive, recurrent feature
                      within the EVN methylation group $(60\%),$ in addition to a
                      small number of other FGFR rearrangements $(13\%).$ In
                      conclusion, our data demonstrate a specific epigenetic
                      signature of EVN suitable for characterization of these
                      tumors as a molecularly distinct entity, and reveal a high
                      frequency of potentially druggable FGFR pathway activation
                      in this tumor group.},
      cin          = {G380 / L101 / B062 / L401 / B360},
      ddc          = {610},
      cid          = {I:(DE-He78)G380-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)L401-20160331 /
                      I:(DE-He78)B360-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29978331},
      doi          = {10.1007/s00401-018-1882-3},
      url          = {https://inrepo02.dkfz.de/record/136812},
}