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@ARTICLE{Halliday:131722,
      author       = {G. C. Halliday and R. C. Junckerstorff and J. M. Bentel and
                      A. Miles and D. Jones$^*$ and V. Hovestadt$^*$ and D.
                      Capper$^*$ and R. Endersby and C. H. Cole and T. van Hagen
                      and N. G. Gottardo},
      title        = {{T}he case for {DNA} methylation based molecular profiling
                      to improve diagnostic accuracy for central nervous system
                      embryonal tumors (not otherwise specified) in adults.},
      journal      = {Journal of clinical neuroscience},
      volume       = {47},
      issn         = {0967-5868},
      address      = {Burlington, Mass.},
      publisher    = {Harcourt},
      reportid     = {DKFZ-2018-00028},
      pages        = {163 - 167},
      year         = {2018},
      abstract     = {Central nervous system primitive neuro-ectodermal tumors
                      (CNS-PNETs), have recently been re-classified in the most
                      recent 2016 WHO Classification into a standby catch all
                      category, 'CNS Embryonal Tumor, not otherwise specified'
                      (CNS embryonal tumor, NOS) based on epigenetic, biologic and
                      histopathologic criteria. CNS embryonal tumors (NOS) are a
                      rare, histologically and molecularly heterogeneous group of
                      tumors that predominantly affect children, and occasionally
                      adults. Diagnosis of this entity continues to be challenging
                      and the ramifications of misdiagnosis of this aggressive
                      class of brain tumors are significant. We report the case of
                      a 45-year-old woman who was diagnosed with a central nervous
                      system embryonal tumor (NOS) based on immunohistochemical
                      analysis of the patients tumor at diagnosis. However, later
                      genome-wide methylation profiling of the diagnostic tumor
                      undertaken to guide treatment, revealed characteristics most
                      consistent with IDH-mutant astrocytoma. DNA sequencing and
                      immunohistochemistry confirmed the presence of IDH1 and ATRX
                      mutations resulting in a revised diagnosis of high-grade
                      small cell astrocytoma, and the implementation of a less
                      aggressive treatment regime tailored more appropriately to
                      the patients tumor type. This case highlights the inadequacy
                      of histology alone for the diagnosis of brain tumours and
                      the utility of methylation profiling and integrated genomic
                      analysis for the diagnostic verification of adults with
                      suspected CNS embryonal tumor (NOS), and is consistent with
                      the increasing realization in the field that a combined
                      diagnostic approach based on clinical, histopathological and
                      molecular data is required to more accurately distinguish
                      brain tumor subtypes and inform more effective therapy.},
      cin          = {B062 / B060 / G380 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)G380-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {319H - Addenda (POF3-319H)},
      pid          = {G:(DE-HGF)POF3-319H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28993028},
      doi          = {10.1016/j.jocn.2017.09.013},
      url          = {https://inrepo02.dkfz.de/record/131722},
}