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.

Child Humans Australia Central Nervous System Neoplasms / diagnosis DNA Methylation / genetics New Zealand Prospective Studies Reproducibility of Results

Journal

The Journal of molecular diagnostics : JMD
ISSN: 1943-7811
Titre abrégé: J Mol Diagn
Pays: United States
ID NLM: 100893612

Informations de publication

Date de publication:
10 2023
Historique:
received: 14 12 2022
revised: 30 05 2023
accepted: 07 06 2023
medline: 19 9 2023
pubmed: 31 7 2023
entrez: 30 7 2023
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.jmoldx.2023.06.013 PMID: 37517472
pubmed: 37517472
pii: S1525-1578(23)00157-5
doi: 10.1016/j.jmoldx.2023.06.013
pii:
doi:

Types de publication

Clinical Trial Journal Article Multicenter Study Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

709-728

Informations de copyright

Copyright © 2023 Association for Molecular Pathology and American Society for Investigative Pathology. All rights reserved.

Auteurs

Christine L White (CL)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia; Victorian Clinical Genetics Services, Parkville, Victoria, Australia.

Kathryn M Kinross (KM)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia; Australian and New Zealand Children's Haematology/Oncology Group, Clayton, Victoria, Australia.

Molly K Moore (MK)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.

Elnaz Rasouli (E)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.

Robyn Strong (R)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia; Australian and New Zealand Children's Haematology/Oncology Group, Clayton, Victoria, Australia.

Janelle M Jones (JM)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia; Australian and New Zealand Children's Haematology/Oncology Group, Clayton, Victoria, Australia.

Jason E Cain (JE)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.

Dominik Sturm (D)

Hopp Children's Cancer Centre Heidelberg, Heidelberg, Germany; Division of Pediatric Glioma Research, German Cancer Research Center and German Cancer Consortium, Heidelberg, Germany; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.

Felix Sahm (F)

Hopp Children's Cancer Centre Heidelberg, Heidelberg, Germany; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany; Clinical Cooperation Unit Neuropathology, German Cancer Research Center and German Cancer Consortium, Heidelberg, Germany.

David T W Jones (DTW)

Hopp Children's Cancer Centre Heidelberg, Heidelberg, Germany; Division of Pediatric Glioma Research, German Cancer Research Center and German Cancer Consortium, Heidelberg, Germany.

Stefan M Pfister (SM)

Hopp Children's Cancer Centre Heidelberg, Heidelberg, Germany; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center and German Cancer Consortium, Heidelberg, Germany.

Thomas Robertson (T)

Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.

Colleen D'Arcy (C)

Department of Pathology, Royal Children's Hospital, Parkville, Victoria, Australia.

Michael L Rodriguez (ML)

Sydney Children's Hospital, Randwick, New South Wales, Australia.

Jason M Dyke (JM)

PathWest Neuropathology, Royal Perth Hospital, Perth, Western Australia, Australia; Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia.

Reimar Junckerstorff (R)

PathWest Neuropathology, Royal Perth Hospital, Perth, Western Australia, Australia; Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia.

Dharmesh D Bhuva (DD)

Walter and Eliza Hall Institute, Melbourne, Victoria, Australia; South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia.

Melissa J Davis (MJ)

Walter and Eliza Hall Institute, Melbourne, Victoria, Australia; South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia.

Paul Wood (P)

Monash Children's Hospital, Clayton, Victoria, Australia.

Tim Hassall (T)

Queensland Children's Hospital, South Brisbane, Queensland, Australia.

David S Ziegler (DS)

Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia; Children's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales (UNSW), Kensington, New South Wales, Australia; School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.

Stewart Kellie (S)

The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Geoffrey McCowage (G)

The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Frank Alvaro (F)

John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.

Maria Kirby (M)

Women's and Children's Hospital, North Adelaide, South Australia, Australia.

John A Heath (JA)

Royal Hobart Hospital, Hobart, Tasmania, Australia.

Karen Tsui (K)

Starship Children's Hospital, Grafton, Auckland, New Zealand.

Andrew Dodgshun (A)

Christchurch Hospital, Christchurch Central City, Christchurch, New Zealand.

David D Eisenstat (DD)

Children's Cancer Centre, Royal Children's Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Dong-Anh Khuong-Quang (DA)

Children's Cancer Centre, Royal Children's Hospital, Parkville, Victoria, Australia.

Meaghan Wall (M)

Victorian Clinical Genetics Services, Parkville, Victoria, Australia.

Elizabeth M Algar (EM)

Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia. Electronic address: elizabeth.algar@monash.edu.

Nicholas G Gottardo (NG)

Perth Children's Hospital, Nedlands, Western Australia, Australia; Telethon Kids Institute, Nedlands, Western Australia, Australia.

Jordan R Hansford (JR)

South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia; Women's and Children's Hospital, North Adelaide, South Australia, Australia; Children's Cancer Centre, Royal Children's Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; South Australia Health and Medical Research Institute, Adelaide, South Australia, Australia.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Implementation of DNA Methylation Array...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Implementation of DNA Methylation Array...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › Implementation of DNA Methylation Array...
questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Implementation of DNA Methylation Array...
questionsmedicales.fr › Phénomènes génétiques › Méthylation de l'ADN › Implementation of DNA Methylation Array...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Nouvelle-Zélande › Implementation of DNA Methylation Array...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › Implementation of DNA Methylation Array...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Reproductibilité des résultats › Implementation of DNA Methylation Array...