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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 > print |
| 001 | 294066 | ||
| 005 | 20241021182144.0 | ||
| 024 | 7 | _ | |a 10.1016/j.ejcped.2024.100198 |2 doi |
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| 100 | 1 | _ | |a Filippidou, Maria |0 P:(DE-He78)cb20261ad59bd4b4dd1484b301c6402c |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece |
| 260 | _ | _ | |a [Amsterdam] |c 2024 |b Elsevier B.V. |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1729518507_15734 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #EA:B062#LA:B062# |
| 520 | _ | _ | |a 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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| 700 | 1 | _ | |a Hasselblatt, Martin |b 9 |
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| 700 | 1 | _ | |a Stefanaki, Kalliopi |b 33 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 34 |e Last author |u dkfz |
| 700 | 1 | _ | |a Kattamis, Antonis |b 35 |
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