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@ARTICLE{Filippidou:294066,
      author       = {M. Filippidou$^*$ and S. Glentis and I. Binenbaum and M.
                      Sill$^*$ and K. Roka and A. Vlachou and G. Avgerinou and J.
                      Ecker$^*$ and F. Selt$^*$ and M. Hasselblatt and M.
                      Blattner-Johnson$^*$ and K. Schramm$^*$ and C. Trougkou and
                      D. Doganis and N. Katzilakis and V. Ridola and E.
                      Papakonstantinou and V. Papadakis and E. Hatzipantelis and
                      E. Kokkinou and R. Pons and C. Kanaka-Gantenbein and D.
                      Sturm$^*$ and S. Hirsch$^*$ and N. Dikow and K. Pajtler$^*$
                      and C. M. van Tilburg$^*$ and M. C. Frühwald and T.
                      Milde$^*$ and O. Witt$^*$ and D. Jones$^*$ and A. von
                      Deimling$^*$ and F. Sahm$^*$ and K. Stefanaki and S.
                      Pfister$^*$ and A. Kattamis},
      title        = {{T}he impact of methylome analysis on the diagnosis and
                      treatment of {CNS} tumours in children and adolescents: {A}
                      population-based study in {G}reece},
      journal      = {EJC paediatric oncology},
      volume       = {4},
      issn         = {2772-610X},
      address      = {[Amsterdam]},
      publisher    = {Elsevier B.V.},
      reportid     = {DKFZ-2024-02087},
      pages        = {100198},
      year         = {2024},
      note         = {#EA:B062#LA:B062#},
      abstract     = {Background: The recently published WHO classification of
                      central nervous system (CNS) tumours recognizes
                      DNAmethylation profiling as a desirable and, for some
                      diagnoses, essential diagnostic tool adjunctive to
                      conventionalhistopathology. DNA methylation profiling is not
                      routinely available in many countries, including
                      Greece.Methods: In this collaborative study, we report the
                      DNA methylation results in a series of children and
                      adolescentswith CNS tumours in Greece (2018–2023). In
                      total, 130 tumour samples were analyzed using the latest
                      applicable version of the Heidelberg brain tumour
                      classifier.Results: Upon initial analysis, 80 $\%$ (104/130)
                      achieved calibrated scores (Cs) ≥ 0.9 and matched an
                      establishedmethylation class family/subclass. Among them,
                      methylation results confirmed (90/104, 86.5 $\%),$ refined
                      (50/104, 48 $\%)$ or changed (10/104, 9.6 $\%)$ the
                      histological diagnosis. Only four results were regarded as
                      noncontributing (4/104, 3.9 $\%).$ Twenty-six tumour samples
                      received Cs < 0.9. Despite low scores, methylationresults
                      supported the initial diagnosis with lower confidence in
                      38.5 $\%$ (10/26) and established the diagnosis intwo
                      tumours with non-conclusive histopathology. Additional
                      t-distributed stochastic neighbour embedding (tSNE) analysis
                      allowed the possible classification of twelve tumours. Nine
                      more samples reached high Cs using thenewer brain tumour
                      classifiers, since available. Samples co-tested in Greece
                      demonstrated excellent test reproducibility, supporting the
                      analysis’ local implementation. Methylome profiling
                      impacted the clinical management of 40 $\%$ of patients,
                      modifying stratification, prognosis, or treatment
                      approach.Conclusions: This study supports the need to
                      integrate methylome analysis into routine diagnostics in our
                      countryand highlights the importance of collaboration
                      between European pediatric oncology centres.},
      cin          = {B310 / HD01 / B062 / B360 / B300},
      ddc          = {610},
      cid          = {I:(DE-He78)B310-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B300-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1016/j.ejcped.2024.100198},
      url          = {https://inrepo02.dkfz.de/record/294066},
}