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@ARTICLE{Hou:143592,
      author       = {Y. Hou and J. Pinheiro and F. Sahm$^*$ and D. E. Reuss$^*$
                      and D. Schrimpf$^*$ and D. Stichel$^*$ and B. Casalini$^*$
                      and C. Koelsche and P. Sievers$^*$ and A. K. Wefers$^*$ and
                      A. Reinhardt$^*$ and A. Ebrahimi$^*$ and F.
                      Fernández-Klett$^*$ and S. Pusch$^*$ and J. Meier and L.
                      Schweizer$^*$ and W. Paulus and M. Prinz and C. Hartmann and
                      K. H. Plate$^*$ and G. Reifenberger and T. Pietsch and P.
                      Varlet and M. Pagès and U. Schüller and D. Scheie and K.
                      de Stricker and S. Frank and J. Hench and B. Pollo and S.
                      Brandner and A. Unterberg and S. M. Pfister$^*$ and D. T. W.
                      Jones$^*$ and A. Korshunov$^*$ and W. Wick$^*$ and D.
                      Capper$^*$ and I. Blümcke and A. von Deimling$^*$ and L.
                      Bertero},
      title        = {{P}apillary glioneuronal tumor ({PGNT}) exhibits a
                      characteristic methylation profile and fusions involving
                      {PRKCA}.},
      journal      = {Acta neuropathologica},
      volume       = {137},
      number       = {5},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-01172},
      pages        = {837 - 846},
      year         = {2019},
      abstract     = {Papillary glioneuronal tumor (PGNT) is a WHO-defined brain
                      tumor entity that poses a major diagnostic challenge.
                      Recently, SLC44A1-PRKCA fusions have been described in PGNT.
                      We subjected 28 brain tumors from different institutions
                      histologically diagnosed as PGNT to molecular and
                      morphological analysis. Array-based methylation analysis
                      revealed that 17/28 tumors exhibited methylation profiles
                      typical for other tumor entities, mostly dysembryoplastic
                      neuroepithelial tumor and hemispheric pilocytic astrocytoma.
                      Conversely, 11/28 tumors exhibited a unique profile, thus
                      constituting a distinct methylation class PGNT. By screening
                      the extended Heidelberg cohort containing over 25,000 CNS
                      tumors, we identified three additional tumors belonging to
                      this methylation cluster but originally histologically
                      diagnosed otherwise. RNA sequencing for the detection of
                      SLC44A1-PRKCA fusions could be performed on 19 of the
                      tumors, 10 of them belonging to the methylation class PGNT.
                      In two additional cases, SLC44A1-PRKCA fusions were
                      confirmed by FISH. We detected fusions involving PRKCA in
                      all cases of this methylation class with material available
                      for analyses: the canonical SLC44A1-PRKCA fusion was
                      observed in 11/12 tumors, while the remaining case exhibited
                      a NOTCH1-PRKCA fusion. Neither of the fusions was found in
                      the tumors belonging to other methylation classes. Our
                      results point towards a high misclassification rate of the
                      morphological diagnosis PGNT and clearly demonstrate the
                      necessity of molecular analyses. PRKCA fusions are highly
                      diagnostic for PGNT, and detection by RNA sequencing enables
                      the identification of rare fusion partners. Methylation
                      analysis recognizes a unique methylation class PGNT
                      irrespective of the nature of the PRKCA fusion.},
      cin          = {B300 / B062 / B320 / B360 / L101 / L201 / L501 / L401},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B320-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)L101-20160331 / I:(DE-He78)L201-20160331 /
                      I:(DE-He78)L501-20160331 / I:(DE-He78)L401-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30759284},
      doi          = {10.1007/s00401-019-01969-2},
      url          = {https://inrepo02.dkfz.de/record/143592},
}