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@ARTICLE{Chirica:294044,
      author       = {M. Chirica and P. Jurmeister and D. Teichmann and A. Koch
                      and E. Perez$^*$ and S. Schmid$^*$ and M. Simon and P. H.
                      Driever and C. Bodden$^*$ and C. M. van Tilburg$^*$ and E.
                      C. Hardin$^*$ and C. Lavarino and J. Hench and D. Scheie and
                      J. Cryan and A. Vicha and F. R. Buttarelli and A. Michiels
                      and C. Haberler and P. Barahona and B. B. J. Tops and T.
                      Jacques and T. Stokland and O. Witt$^*$ and D. T. W. Jones
                      and D. Capper$^*$},
      title        = {{DNA} methylation-array interlaboratory comparison trial
                      demonstrates highly reproducible paediatric {CNS} tumour
                      classification across 13 international centres.},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {50},
      number       = {5},
      issn         = {0305-1846},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2024-02072},
      pages        = {e13010},
      year         = {2024},
      abstract     = {DNA methylation profiling, recently endorsed by the World
                      Health Organisation (WHO) as a pivotal diagnostic tool for
                      brain tumours, most commonly relies on bead arrays. Despite
                      its widespread use, limited data exist on the technical
                      reproducibility and potential cross-institutional
                      differences. The LOGGIC Core BioClinical Data Bank registry
                      conducted a prospective laboratory comparison trial with 12
                      international laboratories to enhance diagnostic accuracy
                      for paediatric low-grade gliomas, focusing on technical
                      aspects of DNA methylation data generation and profile
                      interpretation under clinical real-time conditions.Four
                      representative low-grade gliomas of distinct histologies
                      were centrally selected, and DNA extraction was performed.
                      Participating laboratories received a DNA aliquot and
                      performed the DNA methylation-based classification and
                      result interpretation without knowledge of tumour histology.
                      Additionally, participants were required to interpret the
                      copy number profile derived from DNA methylation data and
                      conduct DNA sequencing of the BRAF hotspot p.V600 due to its
                      relevance for low-grade gliomas. Results had to be returned
                      within 30 days.High technical reproducibility was observed,
                      with a median pairwise correlation of 0.99 (range 0.94-0.99)
                      between coordinating laboratory and participants. DNA
                      methylation-based tumour classification and copy number
                      profile interpretation were consistent across all centres,
                      and BRAF mutation status was accurately reported for all
                      cases. Eleven out of 12 centres successfully reported their
                      analysis within the 30-day timeframe.Our study demonstrates
                      remarkable concordance in DNA methylation profiling and
                      profile interpretation across 12 international centres.
                      These findings underscore the potential contribution of DNA
                      methylation analysis to the harmonisation of brain tumour
                      diagnostics.},
      keywords     = {Humans / DNA Methylation / Child / Reproducibility of
                      Results / Glioma: genetics / Glioma: diagnosis / Glioma:
                      pathology / Brain Neoplasms: genetics / Brain Neoplasms:
                      diagnosis / Brain Neoplasms: pathology / Male / Female /
                      Prospective Studies / Child, Preschool / CNS tumour (Other)
                      / DNA methylation (Other) / interlaboratory comparison trial
                      (Other)},
      cin          = {BE01 / B360 / B310 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B310-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39410806},
      doi          = {10.1111/nan.13010},
      url          = {https://inrepo02.dkfz.de/record/294044},
}