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@ARTICLE{Sievers:170133,
      author       = {P. Sievers$^*$ and S. Henneken$^*$ and C. Blume$^*$ and M.
                      Sill$^*$ and D. Schrimpf$^*$ and D. Stichel$^*$ and K.
                      Okonechnikov$^*$ and D. E. Reuss$^*$ and J. Benzel$^*$ and
                      K. K. Maaß$^*$ and M. Kool$^*$ and D. Sturm$^*$ and T.
                      Zheng$^*$ and D. R. Ghasemi$^*$ and P. Kohlhof-Meinecke and
                      O. Cruz and M. Suñol and C. Lavarino and V. Ruf and H. B.
                      Boldt and M. Pagès and C. Pouget and L. Schweizer$^*$ and
                      M. E. G. Kranendonk and N. Akhtar and S. Bunkowski and C.
                      Stadelmann and U. Schüller and W. C. Mueller and H. Dohmen
                      and T. Acker and P. Harter$^*$ and C. Mawrin and R.
                      Beschorner and S. Brandner and M. Snuderl and Z. Abdullaev
                      and K. Aldape and M. R. Gilbert and T. S. Armstrong and D.
                      W. Ellison and D. Capper$^*$ and K. Ichimura and G.
                      Reifenberger$^*$ and R. G. Grundy and N. Jabado and L.
                      Krskova and M. Zapotocky and A. Vicha and P. Varlet and P.
                      Wesseling and S. Rutkowski and A. Korshunov$^*$ and W.
                      Wick$^*$ and S. M. Pfister$^*$ and D. T. W. Jones$^*$ and A.
                      von Deimling$^*$ and K. W. Pajtler$^*$ and F. Sahm$^*$},
      title        = {{R}ecurrent fusions in {PLAGL}1 define a distinct subset of
                      pediatric-type supratentorial neuroepithelial tumors.},
      journal      = {Acta neuropathologica},
      volume       = {142},
      number       = {5},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2021-01763},
      pages        = {827-839},
      year         = {2021},
      note         = {#EA:B300#LA:B300# / 2021 Nov;142(5):827-839},
      abstract     = {Ependymomas encompass a heterogeneous group of central
                      nervous system (CNS) neoplasms that occur along the entire
                      neuroaxis. In recent years, extensive (epi-)genomic
                      profiling efforts have identified several molecular groups
                      of ependymoma that are characterized by distinct molecular
                      alterations and/or patterns. Based on unsupervised
                      visualization of a large cohort of genome-wide DNA
                      methylation data, we identified a highly distinct group of
                      pediatric-type tumors (n = 40) forming a cluster separate
                      from all established CNS tumor types, of which a high
                      proportion were histopathologically diagnosed as ependymoma.
                      RNA sequencing revealed recurrent fusions involving the
                      pleomorphic adenoma gene-like 1 (PLAGL1) gene in 19 of 20 of
                      the samples analyzed, with the most common fusion being
                      EWSR1:PLAGL1 (n = 13). Five tumors showed a PLAGL1:FOXO1
                      fusion and one a PLAGL1:EP300 fusion. High transcript levels
                      of PLAGL1 were noted in these tumors, with concurrent
                      overexpression of the imprinted genes H19 and IGF2, which
                      are regulated by PLAGL1. Histopathological review of cases
                      with sufficient material (n = 16) demonstrated a broad
                      morphological spectrum of tumors with predominant
                      ependymoma-like features. Immunohistochemically, tumors were
                      GFAP positive and OLIG2- and SOX10 negative. In 3/16 of the
                      cases, a dot-like positivity for EMA was detected. All
                      tumors in our series were located in the supratentorial
                      compartment. Median age of the patients at the time of
                      diagnosis was 6.2 years. Median progression-free survival
                      was 35 months (for 11 patients with data available). In
                      summary, our findings suggest the existence of a novel group
                      of supratentorial neuroepithelial tumors that are
                      characterized by recurrent PLAGL1 fusions and enriched for
                      pediatric patients.},
      keywords     = {EP300 (Other) / EWSR1 (Other) / FOXO1 (Other) / Gene fusion
                      (Other) / Neuroepithelial tumor (Other) / PLAGL1 (Other) /
                      Supratentorial (Other)},
      cin          = {B300 / HD01 / B062 / B240 / B360 / BE01 / FM01 / ED01 /
                      B320},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B240-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)BE01-20160331 /
                      I:(DE-He78)FM01-20160331 / I:(DE-He78)ED01-20160331 /
                      I:(DE-He78)B320-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34355256},
      doi          = {10.1007/s00401-021-02356-6},
      url          = {https://inrepo02.dkfz.de/record/170133},
}