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@ARTICLE{Alhalabi:170394,
      author       = {K. T. Alhalabi$^*$ and D. Stichel$^*$ and P. Sievers$^*$
                      and H. Peterziel and A. C. Sommerkamp$^*$ and D. Sturm$^*$
                      and A. Wittmann$^*$ and M. Sill$^*$ and N. Jäger$^*$ and P.
                      Beck$^*$ and K. W. Pajtler$^*$ and M. Snuderl and G. Jour
                      and M. Delorenzo and A. M. Martin and A. Levy and N. Dalvi
                      and J. R. Hansford and N. G. Gottardo and E. Uro-Coste and
                      C.-A. Maurage and C. Godfraind and F. Vandenbos and T.
                      Pietsch and C. Kramm and M. Filippidou$^*$ and A. Kattamis
                      and C. Jones and I. Øra and T. S. Mikkelsen and M.
                      Zapotocky and D. Sumerauer and D. Scheie and M. McCabe and
                      P. Wesseling and B. B. J. Tops and M. E. G. Kranendonk and
                      M. A. Karajannis and N. Bouvier and E. Papaemmanuil and H.
                      Dohmen and T. Acker and K. von Hoff and S. Schmid and E.
                      Miele and K. Filipski$^*$ and L. Kitanovski and L. Krskova
                      and J. Gojo$^*$ and C. Haberler and F. Alvaro and J.
                      Ecker$^*$ and F. Selt$^*$ and T. Milde$^*$ and O. Witt$^*$
                      and I. Oehme$^*$ and M. Kool$^*$ and A. von Deimling$^*$ and
                      A. Korshunov$^*$ and S. M. Pfister$^*$ and F. Sahm$^*$ and
                      D. Jones$^*$},
      title        = {{PATZ}1 fusions define a novel molecularly distinct
                      neuroepithelial tumor entity with a broad histological
                      spectrum.},
      journal      = {Acta neuropathologica},
      volume       = {142},
      number       = {5},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2021-01903},
      pages        = {841-857},
      year         = {2021},
      note         = {#EA:B360#LA:B360# / #LA:B300# /2021 Nov;142(5):841-857},
      abstract     = {Large-scale molecular profiling studies in recent years
                      have shown that central nervous system (CNS) tumors display
                      a much greater heterogeneity in terms of molecularly
                      distinct entities, cellular origins and genetic drivers than
                      anticipated from histological assessment. DNA methylation
                      profiling has emerged as a useful tool for robust tumor
                      classification, providing new insights into these
                      heterogeneous molecular classes. This is particularly true
                      for rare CNS tumors with a broad morphological spectrum,
                      which are not possible to assign as separate entities based
                      on histological similarity alone. Here, we describe a
                      molecularly distinct subset of predominantly pediatric CNS
                      neoplasms (n = 60) that harbor PATZ1 fusions. The original
                      histological diagnoses of these tumors covered a wide
                      spectrum of tumor types and malignancy grades. While the
                      single most common diagnosis was glioblastoma (GBM),
                      clinical data of the PATZ1-fused tumors showed a better
                      prognosis than typical GBM, despite frequent relapses. RNA
                      sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1
                      fusions related to (often extensive) copy number variations
                      on chromosome 22, where PATZ1 and the two fusion partners
                      are located. These fusions have individually been reported
                      in a number of glial/glioneuronal tumors, as well as
                      extracranial sarcomas. We show here that they are more
                      common than previously acknowledged, and together define a
                      biologically distinct CNS tumor type with high expression of
                      neural development markers such as PAX2, GATA2 and IGF2.
                      Drug screening performed on the MN1:PATZ1 fusion-bearing
                      KS-1 brain tumor cell line revealed preliminary candidates
                      for further study. In summary, PATZ1 fusions define a
                      molecular class of histologically polyphenotypic
                      neuroepithelial tumors, which show an intermediate prognosis
                      under current treatment regimens.},
      keywords     = {Brain tumor (Other) / EWSR1 (Other) / Gene fusion (Other) /
                      MN1 (Other) / Neuroepithelial (Other) / Neurooncology
                      (Other) / PATZ1 (Other) / Pediatric (Other)},
      cin          = {B360 / B300 / HD01 / B062 / FM01 / B310},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)FM01-20160331 / I:(DE-He78)B310-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34417833},
      doi          = {10.1007/s00401-021-02354-8},
      url          = {https://inrepo02.dkfz.de/record/170394},
}