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000294044 1001_ $$aChirica, Mihaela$$b0
000294044 245__ $$aDNA methylation-array interlaboratory comparison trial demonstrates highly reproducible paediatric CNS tumour classification across 13 international centres.
000294044 260__ $$aOxford [u.a.]$$bWiley-Blackwell$$c2024
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000294044 520__ $$aDNA methylation profiling, recently endorsed by the World Health Organisation (WHO) as a pivotal diagnostic tool for brain tumours, most commonly relies on bead arrays. Despite its widespread use, limited data exist on the technical reproducibility and potential cross-institutional differences. The LOGGIC Core BioClinical Data Bank registry conducted a prospective laboratory comparison trial with 12 international laboratories to enhance diagnostic accuracy for paediatric low-grade gliomas, focusing on technical aspects of DNA methylation data generation and profile interpretation under clinical real-time conditions.Four representative low-grade gliomas of distinct histologies were centrally selected, and DNA extraction was performed. Participating laboratories received a DNA aliquot and performed the DNA methylation-based classification and result interpretation without knowledge of tumour histology. Additionally, participants were required to interpret the copy number profile derived from DNA methylation data and conduct DNA sequencing of the BRAF hotspot p.V600 due to its relevance for low-grade gliomas. Results had to be returned within 30 days.High technical reproducibility was observed, with a median pairwise correlation of 0.99 (range 0.94-0.99) between coordinating laboratory and participants. DNA methylation-based tumour classification and copy number profile interpretation were consistent across all centres, and BRAF mutation status was accurately reported for all cases. Eleven out of 12 centres successfully reported their analysis within the 30-day timeframe.Our study demonstrates remarkable concordance in DNA methylation profiling and profile interpretation across 12 international centres. These findings underscore the potential contribution of DNA methylation analysis to the harmonisation of brain tumour diagnostics.
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000294044 650_7 $$2Other$$aCNS tumour
000294044 650_7 $$2Other$$aDNA methylation
000294044 650_7 $$2Other$$ainterlaboratory comparison trial
000294044 650_2 $$2MeSH$$aHumans
000294044 650_2 $$2MeSH$$aDNA Methylation
000294044 650_2 $$2MeSH$$aChild
000294044 650_2 $$2MeSH$$aReproducibility of Results
000294044 650_2 $$2MeSH$$aGlioma: genetics
000294044 650_2 $$2MeSH$$aGlioma: diagnosis
000294044 650_2 $$2MeSH$$aGlioma: pathology
000294044 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000294044 650_2 $$2MeSH$$aBrain Neoplasms: diagnosis
000294044 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000294044 650_2 $$2MeSH$$aMale
000294044 650_2 $$2MeSH$$aFemale
000294044 650_2 $$2MeSH$$aProspective Studies
000294044 650_2 $$2MeSH$$aChild, Preschool
000294044 7001_ $$aJurmeister, Philipp$$b1
000294044 7001_ $$aTeichmann, Daniel$$b2
000294044 7001_ $$aKoch, Arend$$b3
000294044 7001_ $$0P:(DE-He78)1f787894bce1fbdb7ffbef3eb118d77a$$aPerez, Eilis$$b4$$udkfz
000294044 7001_ $$0P:(DE-He78)6e4a8cc4eb35e694f95453ed8a927a83$$aSchmid, Simone$$b5$$udkfz
000294044 7001_ $$aSimon, Michèle$$b6
000294044 7001_ $$aDriever, Pablo Hernáiz$$b7
000294044 7001_ $$0P:(DE-He78)47cd5146804f8663c787b3b66fa8ffae$$aBodden, Carina$$b8$$udkfz
000294044 7001_ $$0P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271$$avan Tilburg, Cornelis Martinus$$b9$$udkfz
000294044 7001_ $$0P:(DE-He78)953707d4b9faf5d9183b719847bd99f0$$aHardin, Emily Cecilia$$b10$$udkfz
000294044 7001_ $$aLavarino, Cinzia$$b11
000294044 7001_ $$aHench, Jürgen$$b12
000294044 7001_ $$aScheie, David$$b13
000294044 7001_ $$aCryan, Jane$$b14
000294044 7001_ $$aVicha, Ales$$b15
000294044 7001_ $$aButtarelli, Francesca R$$b16
000294044 7001_ $$aMichiels, An$$b17
000294044 7001_ $$aHaberler, Christine$$b18
000294044 7001_ $$aBarahona, Paulette$$b19
000294044 7001_ $$aTops, Bastiaan B J$$b20
000294044 7001_ $$00000-0002-7833-2158$$aJacques, Tom$$b21
000294044 7001_ $$aStokland, Tore$$b22
000294044 7001_ $$0P:(DE-He78)143af26de9d57bf624771616318aaf7c$$aWitt, Olaf$$b23$$udkfz
000294044 7001_ $$aJones, David T W$$b24
000294044 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b25$$udkfz
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