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@ARTICLE{Appay:156763,
      author       = {R. Appay and M. Pages and C. Colin and D. T. W. Jones$^*$
                      and P. Varlet and D. Figarella-Branger},
      title        = {{D}iffuse leptomeningeal glioneuronal tumor: a double
                      misnomer? {A} report of two cases.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {8},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2020-01087},
      pages        = {95},
      year         = {2020},
      abstract     = {Diffuse leptomeningeal glioneuronal tumor (DLGNT) was
                      introduced, for the first time, as a provisional entity in
                      the 2016 WHO classification of central nervous system
                      tumors. DLGNT mainly occur in children and characterized by
                      a widespread leptomeningeal growth occasionally associated
                      with intraspinal tumor nodules, an oligodendroglial-like
                      cytology, glioneuronal differentiation and MAP-Kinase
                      activation associated with either solitary 1p deletion or
                      1p/19q codeletion in the absence of IDH mutation.We report
                      here two unexpected DLGNTs adult cases, characterized by a
                      unique supratentorial circumscribed intraparenchymal tumor
                      without leptomeningeal involvement in spite of long
                      follow-up. In both cases, the diagnosis of DLGNT was made
                      after DNA-methylation profiling which demonstrated that one
                      case belonged to the DLGNT class whereas the other remained
                      not classifiable but showed on CNV the characteristic
                      genetic findings recorded in DLGNT. Both cases harbored
                      1p/19q codeletion associated with KIAA1549:BRAF fusion in
                      one case and with BRAF V600E and PIK3CA E545A mutations, in
                      the other.Our study enlarges the clinical and molecular
                      spectrum of DLGNTs, and points out that the terminology of
                      DLGNTs is not fully appropriate since some cases could have
                      neither diffuse growth nor leptomeningeal dissemination.
                      This suggests that DLGNTs encompass a wide spectrum of
                      tumors that has yet to be fully clarified.},
      cin          = {B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32605662},
      doi          = {10.1186/s40478-020-00978-7},
      url          = {https://inrepo02.dkfz.de/record/156763},
}