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000294066 0247_ $$2doi$$a10.1016/j.ejcped.2024.100198
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000294066 1001_ $$0P:(DE-He78)cb20261ad59bd4b4dd1484b301c6402c$$aFilippidou, Maria$$b0$$eFirst author$$udkfz
000294066 245__ $$aThe impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece
000294066 260__ $$a[Amsterdam]$$bElsevier B.V.$$c2024
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000294066 520__ $$aBackground: 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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000294066 7001_ $$aGlentis, Stavros$$b1
000294066 7001_ $$aBinenbaum, Ilona$$b2
000294066 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b3$$udkfz
000294066 7001_ $$aRoka, Kleoniki$$b4
000294066 7001_ $$aVlachou, Antonia$$b5
000294066 7001_ $$aAvgerinou, Georgia$$b6
000294066 7001_ $$0P:(DE-He78)3de637452ba900e2bdd359b8f41953bf$$aEcker, Jonas$$b7$$udkfz
000294066 7001_ $$0P:(DE-He78)a23e88cc676489fe05be8c178ceaf58e$$aSelt, Florian$$b8$$udkfz
000294066 7001_ $$aHasselblatt, Martin$$b9
000294066 7001_ $$0P:(DE-He78)261d2b84aded878003e6e35d18113831$$aBlattner-Johnson, Mirjam$$b10$$udkfz
000294066 7001_ $$0P:(DE-He78)2f592d9d8339bee07cca3956b7472b61$$aSchramm, Kathrin$$b11$$udkfz
000294066 7001_ $$aTrougkou, Clio$$b12
000294066 7001_ $$aDoganis, Dimitrios$$b13
000294066 7001_ $$aKatzilakis, Nikolaos$$b14
000294066 7001_ $$aRidola, Vita$$b15
000294066 7001_ $$aPapakonstantinou, Evgenia$$b16
000294066 7001_ $$aPapadakis, Vassilios$$b17
000294066 7001_ $$aHatzipantelis, Emmanouel$$b18
000294066 7001_ $$aKokkinou, Eleftheria$$b19
000294066 7001_ $$aPons, Roser$$b20
000294066 7001_ $$aKanaka-Gantenbein, Christina$$b21
000294066 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b22$$udkfz
000294066 7001_ $$0P:(DE-He78)5e3d4de4b59cd068969e101847794267$$aHirsch, Steffen$$b23$$udkfz
000294066 7001_ $$aDikow, Nicola$$b24
000294066 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian$$b25$$udkfz
000294066 7001_ $$0P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271$$avan Tilburg, Cornelis Martinus$$b26$$udkfz
000294066 7001_ $$aFrühwald, Michael C.$$b27
000294066 7001_ $$0P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f$$aMilde, Till$$b28$$udkfz
000294066 7001_ $$0P:(DE-He78)143af26de9d57bf624771616318aaf7c$$aWitt, Olaf$$b29$$udkfz
000294066 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b30$$udkfz
000294066 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b31$$udkfz
000294066 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b32$$udkfz
000294066 7001_ $$aStefanaki, Kalliopi$$b33
000294066 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b34$$eLast author$$udkfz
000294066 7001_ $$aKattamis, Antonis$$b35
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