000277882 001__ 277882 000277882 005__ 20240229155026.0 000277882 0247_ $$2doi$$a10.1016/j.jmoldx.2023.06.013 000277882 0247_ $$2pmid$$apmid:37517472 000277882 0247_ $$2ISSN$$a1525-1578 000277882 0247_ $$2ISSN$$a1943-7811 000277882 0247_ $$2altmetric$$aaltmetric:152285738 000277882 037__ $$aDKFZ-2023-01550 000277882 041__ $$aEnglish 000277882 082__ $$a610 000277882 1001_ $$aWhite, Christine L$$b0 000277882 245__ $$aImplementation of DNA methylation array profiling in pediatric central nervous system tumors - the AIM BRAIN Project: an Australian and New Zealand Children's Haematology and Oncology (ANZCHOG) Group study. 000277882 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2023 000277882 3367_ $$2DRIVER$$aarticle 000277882 3367_ $$2DataCite$$aOutput Types/Journal article 000277882 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1695117544_15142 000277882 3367_ $$2BibTeX$$aARTICLE 000277882 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000277882 3367_ $$00$$2EndNote$$aJournal Article 000277882 500__ $$a2023 Oct;25(10):709-728 000277882 520__ $$aDNA methylation array profiling for classifying pediatric central nervous system (CNS) tumors is a valuable adjunct to histopathology. However, unbiased prospective and inter-laboratory validation studies have been lacking. The AIM BRAIN (AB) diagnostic trial involving 11 pediatric cancer centers in Australia and New Zealand was designed to test the feasibility of routine clinical testing and ran in parallel with the Molecular Neuropathology 2.0 (MNP2.0) study at Deutsches Krebsforschungszentrum (DKFZ) (German Cancer Centre Heidelberg, Germany). CNS tumors from 269 pediatric patients were prospectively tested on Illumina EPIC arrays including 104 cases co-enrolled on MNP2.0. Using MNP classifier versions 11b4 and 12.5, we report classifications with a probability score ≥ 0.90 in 176/265 (66.4%) and 213/269 (79.2%) cases, respectively. Significant diagnostic information was obtained in 130/176 (74%) (11b4) and 12/174 (7%) classifications were discordant with histopathology. Cases prospectively co-enrolled on MNP2.0 gave concordant classifications (99%) and score thresholds (93%), demonstrating excellent test reproducibility and sensitivity. Overall, DNA methylation profiling is a robust single work-flow technique with an acceptable diagnostic yield that is considerably enhanced by the extensive subgroup and copy number profile information generated by the platform. The platform has excellent test reproducibility and sensitivity and contributes significantly to CNS tumor diagnosis. 000277882 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0 000277882 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de 000277882 7001_ $$aKinross, Kathryn M$$b1 000277882 7001_ $$aBuntine, Molly K$$b2 000277882 7001_ $$aRasouli, Elnaz$$b3 000277882 7001_ $$aStrong, Robyn$$b4 000277882 7001_ $$aJones, Janelle M$$b5 000277882 7001_ $$aCain, Jason E$$b6 000277882 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b7$$udkfz 000277882 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b8$$udkfz 000277882 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b9$$udkfz 000277882 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b10$$udkfz 000277882 7001_ $$aRobertson, Thomas$$b11 000277882 7001_ $$aD'Arcy, Colleen$$b12 000277882 7001_ $$aRodriguez, Michael L$$b13 000277882 7001_ $$aDyke, Jason M$$b14 000277882 7001_ $$aJunckerstorff, Reimar$$b15 000277882 7001_ $$aBhuva, Dharmesh D$$b16 000277882 7001_ $$aDavis, Melissa J$$b17 000277882 7001_ $$aWood, Paul$$b18 000277882 7001_ $$aHassall, Tim$$b19 000277882 7001_ $$aZiegler, David S$$b20 000277882 7001_ $$aKellie, Stewart$$b21 000277882 7001_ $$aMcCowage, Geoffrey$$b22 000277882 7001_ $$aAlvaro, Frank$$b23 000277882 7001_ $$aKirby, Maria$$b24 000277882 7001_ $$aHeath, John A$$b25 000277882 7001_ $$aTsui, Karen$$b26 000277882 7001_ $$aDodgshun, Andrew$$b27 000277882 7001_ $$aEisenstat, David D$$b28 000277882 7001_ $$aKhuong-Quang, Dong-Anh$$b29 000277882 7001_ $$aWall, Meaghan$$b30 000277882 7001_ $$aAlgar, Elizabeth M$$b31 000277882 7001_ $$aGottardo, Nicholas G$$b32 000277882 7001_ $$aHansford, Jordan R$$b33 000277882 773__ $$0PERI:(DE-600)2032654-3$$a10.1016/j.jmoldx.2023.06.013$$gp. 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