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| Home > Publications database > The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece |
| Home > Publications database > The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece |
| Journal Article | DKFZ-2024-02087 |
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2024
Elsevier B.V.
[Amsterdam]
Please use a persistent id in citations: doi:10.1016/j.ejcped.2024.100198
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.
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