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@ARTICLE{Suwala:168435,
      author       = {A. K. Suwala$^*$ and D. Stichel$^*$ and D. Schrimpf$^*$ and
                      S. L. N. Maas and M. Sill$^*$ and H. Dohmen and R. Banan and
                      A. Reinhardt$^*$ and P. Sievers$^*$ and F. Hinz$^*$ and M.
                      Blattner-Johnson$^*$ and C. Hartmann and L. Schweizer$^*$
                      and H. B. Boldt and B. W. Kristensen and J. Schittenhelm and
                      M. D. Wood and G. Chotard and R. Bjergvig and A. Das and U.
                      Tabori and M. Hasselblatt and A. Korshunov$^*$ and Z.
                      Abdullaev and M. Quezado and K. Aldape and P. Harter$^*$ and
                      M. Snuderl and J. Hench and S. Frank and T. Acker and S.
                      Brandner and F. Winkler$^*$ and P. Wesseling and S. M.
                      Pfister$^*$ and D. E. Reuss$^*$ and W. Wick$^*$ and A. von
                      Deimling$^*$ and D. T. W. Jones$^*$ and F. Sahm$^*$},
      title        = {{G}lioblastomas with primitive neuronal component harbor a
                      distinct methylation and copy-number profile with
                      inactivation of {TP}53, {PTEN}, and {RB}1.},
      journal      = {Acta neuropathologica},
      volume       = {142},
      number       = {1},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2021-00909},
      pages        = {179-189},
      year         = {2021},
      note         = {#EA:B300#LA:B300# /2021 Jul;142(1):179-189},
      abstract     = {Glioblastoma IDH-wildtype presents with a wide histological
                      spectrum. Some features are so distinctive that they are
                      considered as separate histological variants or patterns for
                      the purpose of classification. However, these usually lack
                      defined (epi-)genetic alterations or profiles correlating
                      with this histology. Here, we describe a molecular subtype
                      with overlap to the unique histological pattern of
                      glioblastoma with primitive neuronal component. Our cohort
                      consists of 63 IDH-wildtype glioblastomas that harbor a
                      characteristic DNA methylation profile. Median age at
                      diagnosis was 59.5 years. Copy-number variations and
                      genetic sequencing revealed frequent alterations in TP53,
                      RB1 and PTEN, with fewer gains of chromosome 7 and
                      homozygous CDKN2A/B deletions than usually described for
                      IDH-wildtype glioblastoma. Gains of chromosome 1 were
                      detected in more than half of the cases. A poorly
                      differentiated phenotype with frequent absence of GFAP
                      expression, high proliferation index and strong staining for
                      p53 and TTF1 often caused misleading histological
                      classification as carcinoma metastasis or primitive
                      neuroectodermal tumor. Clinically, many patients presented
                      with leptomeningeal dissemination and spinal metastasis.
                      Outcome was poor with a median overall survival of only
                      12 months. Overall, we describe a new molecular subtype of
                      IDH-wildtype glioblastoma with a distinct histological
                      appearance and genetic signature.},
      keywords     = {Classification (Other) / DNA methylation (Other) / GBM
                      (Other) / PNET (Other) / Phenotype (Other) / Plasticity
                      (Other)},
      cin          = {B300 / HD01 / B062 / B360 / BE01 / B320},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)BE01-20160331 / 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:33876327},
      doi          = {10.1007/s00401-021-02302-6},
      url          = {https://inrepo02.dkfz.de/record/168435},
}