Journal Article

DKFZ-2023-01550

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Implementation 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.

White, C. L. ; Kinross, K. M. ; Buntine, M. K. ; Rasouli, E. ; Strong, R. ; Jones, J. M. ; Cain, J. E. ; Sturm, D.DKFZ* ; Sahm, F.DKFZ* ; Jones, D. T. W.DKFZ* ; Pfister, S. M.DKFZ* ; Robertson, T. ; D'Arcy, C. ; Rodriguez, M. L. ; Dyke, J. M. ; Junckerstorff, R. ; Bhuva, D. D. ; Davis, M. J. ; Wood, P. ; Hassall, T. ; Ziegler, D. S. ; Kellie, S. ; McCowage, G. ; Alvaro, F. ; Kirby, M. ; Heath, J. A. ; Tsui, K. ; Dodgshun, A. ; Eisenstat, D. D. ; Khuong-Quang, D.-A. ; Wall, M. ; Algar, E. M. ; Gottardo, N. G. ; Hansford, J. R.

2023
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.jmoldx.2023.06.013

Abstract: DNA 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.

Note: 2023 Oct;25(10):709-728

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Contributing Institute(s):

1. Pädiatische Gliomforschung (B360)
2. DKTK HD zentral (HD01)
3. KKE Neuropathologie (B300)
4. B062 Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2023

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF < 5 ; JCR ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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