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Implementation of DNA methylation array profiling in pediatric central nervous system tumors: the AIM BRAIN project : an Australian and New Zealand children's haematology/oncology group study

DNA methylation array profiling for classifying pediatric central nervous system (CNS) tumors is a valuable adjunct to histopathology. However, unbiased prospective and interlaboratory validation studies have been lacking. The AIM BRAIN diagnostic trial involving 11 pediatric cancer centers in Austr...

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Main Authors: White, Christine (Author) , Kinross, Kathryn M. (Author) , Moore, Molly K. (Author) , Rasouli, Elnaz (Author) , Strong, Robyn (Author) , Jones, Janelle M. (Author) , Cain, Jason E. (Author) , Sturm, Dominik (Author) , Sahm, Felix (Author) , Jones, David T. W. (Author) , Pfister, Stefan (Author) , Robertson, Thomas (Author) , D'Arcy, Colleen (Author) , Rodriguez, Michael L. (Author) , Dyke, Jason M. (Author) , Junckerstorff, Reimar (Author) , Bhuva, Dharmesh D. (Author) , Davis, Melissa J. (Author) , Wood, Paul (Author) , Hassall, Tim (Author) , Ziegler, David S. (Author) , Kellie, Stewart (Author) , McCowage, Geoffrey (Author) , Alvaro, Frank (Author) , Kirby, Maria (Author) , Heath, John A. (Author) , Tsui, Karen (Author) , Dodgshun, Andrew (Author) , Eisenstat, David D. (Author) , Khuong-Quang, Dong-Anh (Author) , Wall, Meaghan (Author) , Algar, Elizabeth M. (Author) , Gottardo, Nicholas G. (Author) , Hansford, Jordan R. (Author)
Format: Article (Journal)
Language:English
Published: October 2023
In: The journal of molecular diagnostics
Year: 2023, Volume: 25, Issue: 10, Pages: 709-728
ISSN:1943-7811
DOI:10.1016/j.jmoldx.2023.06.013
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.jmoldx.2023.06.013
Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1525157823001575
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Author Notes:Christine L. White, Kathryn M. Kinross, Molly K. Moore, Elnaz Rasouli, Robyn Strong, Janelle M. Jones, Jason E. Cain, Dominik Sturm, Felix Sahm, David T.W. Jones, Stefan M. Pfister, Thomas Robertson, Colleen D'Arcy, Michael L. Rodriguez, Jason M. Dyke, Reimar Junckerstorff, Dharmesh D. Bhuva, Melissa J. Davis, Paul Wood, Tim Hassall, David S. Ziegler, Stewart Kellie, Geoffrey McCowage, Frank Alvaro, Maria Kirby, John A. Heath, Karen Tsui, Andrew Dodgshun, David D. Eisenstat, Dong-Anh Khuong-Quang, Meaghan Wall, Elizabeth M. Algar, Nicholas G. Gottardo, and Jordan R. Hansford
Description
Summary:DNA methylation array profiling for classifying pediatric central nervous system (CNS) tumors is a valuable adjunct to histopathology. However, unbiased prospective and interlaboratory validation studies have been lacking. The AIM BRAIN 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 (German Cancer Research Center). 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 of 265 (66.4%) and 213 of 269 (79.2%) cases, respectively. Significant diagnostic information was obtained in 130 of 176 (74%) for 11b4, and 12 of 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 workflow 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.
Item Description:Online verfügbar: 28. Juli 2023, Artikelversion: 15. September 2023
Gesehen am 29.01.2024
Physical Description:Online Resource
ISSN:1943-7811
DOI:10.1016/j.jmoldx.2023.06.013

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