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@ARTICLE{Jaunmuktane:143043,
      author       = {Z. Jaunmuktane and D. Capper$^*$ and D. Jones$^*$ and D.
                      Schrimpf$^*$ and M. Sill$^*$ and M. Dutt and N. Suraweera
                      and S. Pfister$^*$ and A. von Deimling$^*$ and S. Brandner},
      title        = {{M}ethylation array profiling of adult brain tumours:
                      diagnostic outcomes in a large, single centre.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {7},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2019-00662},
      pages        = {24},
      year         = {2019},
      abstract     = {The introduction of the classification of brain tumours
                      based on their DNA methylation profile has significantly
                      changed the diagnostic approach for cases with ambiguous
                      histology, non-informative or contradictory molecular
                      profiles or for entities where methylation profiling
                      provides useful information for patient risk stratification,
                      for example in medulloblastoma and ependymoma. We present
                      our experience that combines a conventional molecular
                      diagnostic approach with the complementary use of a DNA
                      methylation-based classification tool, for adult brain
                      tumours originating from local as well as national
                      referrals. We report the frequency of IDH mutations in a
                      large cohort of nearly 1550 patients, EGFR amplifications in
                      almost 1900 IDH-wildtype glioblastomas, and histone
                      mutations in 70 adult gliomas. We demonstrate how additional
                      methylation-based classification has changed and improved
                      our diagnostic approach. Of the 325 cases referred for
                      methylome testing, 179 $(56\%)$ had a calibrated score of
                      0.84 and higher and were included in the evaluation. In
                      these 179 samples, the diagnosis was changed in 45 $(25\%),$
                      refined in 86 $(48\%)$ and confirmed in 44 cases $(25\%).$
                      In addition, the methylation arrays contain copy number
                      information that usefully complements the methylation
                      profile. For example, EGFR amplification which is $95\%$
                      concordant with our Real-Time PCR-based copy number assays.
                      We propose here a diagnostic algorithm that integrates
                      histology, conventional molecular tests and methylation
                      arrays.},
      cin          = {B300 / B360 / B062 / L201 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)L201-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30786920},
      pmc          = {pmc:PMC6381711},
      doi          = {10.1186/s40478-019-0668-8},
      url          = {https://inrepo02.dkfz.de/record/143043},
}