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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.
White, Christine L; Kinross, Kathryn M; Moore, Molly K; Rasouli, Elnaz; Strong, Robyn; Jones, Janelle M; Cain, Jason E; Sturm, Dominik; Sahm, Felix; Jones, David T W; Pfister, Stefan M; Robertson, Thomas; D'Arcy, Colleen; Rodriguez, Michael L; Dyke, Jason M; Junckerstorff, Reimar; Bhuva, Dharmesh D; Davis, Melissa J; Wood, Paul; Hassall, Tim; Ziegler, David S; Kellie, Stewart; McCowage, Geoffrey; Alvaro, Frank; Kirby, Maria; Heath, John A; Tsui, Karen; Dodgshun, Andrew; Eisenstat, David D; Khuong-Quang, Dong-Anh; Wall, Meaghan; Algar, Elizabeth M; Gottardo, Nicholas G; Hansford, Jordan R.
Affiliation
  • 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.
  • 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.
  • Moore MK; Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.
  • Rasouli E; Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.
  • 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.
  • 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.
  • Cain JE; Hudson Institute of Medical Research, Clayton, Victoria, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.
  • 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.
  • 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.
  • 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.
  • 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.
  • Robertson T; Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
  • D'Arcy C; Department of Pathology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Rodriguez ML; Sydney Children's Hospital, Randwick, New South Wales, Australia.
  • Dyke JM; PathWest Neuropathology, Royal Perth Hospital, Perth, Western Australia, Australia; Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia.
  • Junckerstorff R; PathWest Neuropathology, Royal Perth Hospital, Perth, Western Australia, Australia; Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia.
  • Bhuva DD; Walter and Eliza Hall Institute, Melbourne, Victoria, Australia; South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Davis MJ; Walter and Eliza Hall Institute, Melbourne, Victoria, Australia; South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Wood P; Monash Children's Hospital, Clayton, Victoria, Australia.
  • Hassall T; Queensland Children's Hospital, South Brisbane, Queensland, Australia.
  • 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, Ne
  • Kellie S; The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • McCowage G; The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Alvaro F; John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.
  • Kirby M; Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Heath JA; Royal Hobart Hospital, Hobart, Tasmania, Australia.
  • Tsui K; Starship Children's Hospital, Grafton, Auckland, New Zealand.
  • Dodgshun A; Christchurch Hospital, Christchurch Central City, Christchurch, New Zealand.
  • 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.
  • Khuong-Quang DA; Children's Cancer Centre, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Wall M; Victorian Clinical Genetics Services, Parkville, Victoria, Australia.
  • 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.
  • Gottardo NG; Perth Children's Hospital, Nedlands, Western Australia, Australia; Telethon Kids Institute, Nedlands, Western Australia, Australia.
  • 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
J Mol Diagn ; 25(10): 709-728, 2023 10.
Article in En | MEDLINE | ID: mdl-37517472
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Central Nervous System Neoplasms / DNA Methylation Type of study: Clinical_trials / Diagnostic_studies / Observational_studies Limits: Child / Humans Country/Region as subject: Oceania Language: En Journal: J Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2023 Type: Article Affiliation country: Australia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Central Nervous System Neoplasms / DNA Methylation Type of study: Clinical_trials / Diagnostic_studies / Observational_studies Limits: Child / Humans Country/Region as subject: Oceania Language: En Journal: J Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2023 Type: Article Affiliation country: Australia