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@ARTICLE{Schepke:180808,
      author       = {E. Schepke and M. Löfgren and T. Pietsch and T. O. Bontell
                      and T. Kling and A. Wenger and S. F. Vega and A. Danielsson
                      and S. Dosa and S. Holm and A. Öberg and P. Nyman and M.
                      Eliasson-Hofvander and P.-E. Sandström and S. Pfister$^*$
                      and B. Lannering and M. Sabel and H. Carén},
      title        = {{DNA} methylation profiling improves routine diagnosis of
                      paediatric {CNS} tumours: a prospective population-based
                      study.},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {48},
      number       = {6},
      issn         = {0305-1846},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2022-01570},
      pages        = {e12838},
      year         = {2022},
      note         = {2022 Oct;48(6):e12838},
      abstract     = {Paediatric brain tumours are rare and establishing a
                      precise diagnosis can be challenging. Analysis of DNA
                      methylation profiles has been shown to be a reliable method
                      to classify central nervous system (CNS) tumours with high
                      accuracy. We aimed to prospectively analyse CNS tumours
                      diagnosed in Sweden, to assess the clinical impact of adding
                      DNA methylation-based classification to standard paediatric
                      brain tumour diagnostics in an unselected cohort.All CNS
                      tumours diagnosed in children (0-18 years) during 2017-2020
                      were eligible for inclusion provided sufficient tumour
                      material was available. Tumours were analysed using
                      genome-wide DNA methylation profiling and classified by the
                      MNP brain tumour classifier. The initial histopathological
                      diagnosis was compared to the DNA methylation-based
                      classification. For incongruent results, a blinded
                      re-evaluation was performed by an experienced
                      neuropathologist.240 tumours with a histopathology-based
                      diagnosis were profiled. A high-confidence methylation score
                      of 0.84 or more was reached in $78\%$ of the cases. In
                      $69\%,$ the histopathological diagnosis was confirmed and
                      for some of these also refined, $6\%$ were incongruent and
                      the re-evaluation favoured the methylation-based
                      classification. In the remaining $3\%$ of cases, the
                      methylation class was non-contributory. The change in
                      diagnosis would have had a direct impact on the clinical
                      management in $5\%$ of all patients.Integrating DNA
                      methylation-based tumour classification into routine
                      clinical analysis improves diagnostics and provides
                      molecular information that is important for treatment
                      decisions. The results from methylation profiling should be
                      interpreted in the context of clinical and histopathological
                      information.},
      keywords     = {DNA methylation profiling (Other) / Molecular
                      classification (Other) / Paediatric brain tumours (Other) /
                      diagnostics (Other)},
      cin          = {B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35892159},
      doi          = {10.1111/nan.12838},
      url          = {https://inrepo02.dkfz.de/record/180808},
}