Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre

Acta Neuropathologica Communications
Zane JaunmuktaneSebastian Brandner

Abstract

The introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with ambiguous histology, non-informative or contradictory molecular profiles or for entities where methylation profiling provides useful information for patient risk stratification, for example in medulloblastoma and ependymoma. We present our experience that combines a conventional molecular diagnostic approach with the complementary use of a DNA methylation-based classification tool, for adult brain tumours originating from local as well as national referrals. We report the frequency of IDH mutations in a large cohort of nearly 1550 patients, EGFR amplifications in almost 1900 IDH-wildtype glioblastomas, and histone mutations in 70 adult gliomas. We demonstrate how additional methylation-based classification has changed and improved our diagnostic approach. Of the 325 cases referred for methylome testing, 179 (56%) had a calibrated score of 0.84 and higher and were included in the evaluation. In these 179 samples, the diagnosis was changed in 45 (25%), refined in 86 (48%) and confirmed in 44 cases (25%). In addition, the methylation arrays contain copy number information t...Continue Reading

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Citations

Jan 20, 2020·Neuropathology and Applied Neurobiology·E Perez, D Capper
Feb 15, 2020·The Journal of Pathology·Jessica C PicklesThomas S Jacques
May 30, 2020·International Journal of Clinical Oncology·Hiromi OnizukaTakashi Komori
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Jul 8, 2020·BMC Medical Informatics and Decision Making·Carole H SudreSotirios Bisdas
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Jan 16, 2021·CNS Oncology·Timothy A GregoryBrett J Theeler
Feb 8, 2021·Journal of Neuropathology and Experimental Neurology·Amber L PryzbylskiCristiane M Ida
Dec 2, 2019·The Lancet Child & Adolescent Health·Jessica C PicklesThomas S Jacques
Apr 20, 2021·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jennifer A CotterAlexander R Judkins
May 5, 2021·Clinical Epigenetics·Sandra Ferreyra VegaHelena Carén
Feb 10, 2021·Neuro-oncology·Thais S SabedotHoutan Noushmehr
Jun 30, 2021·Neuro-oncology·David N LouisDavid W Ellison
Jul 2, 2021·Acta Neuropathologica Communications·James F LyonMariano S Viapiano
Aug 8, 2021·Journal of Neuropathology and Experimental Neurology·Laetitia LebrunIsabelle Salmon
Jan 15, 2022·European Journal of Nuclear Medicine and Molecular Imaging·Laura ManciniSotirios Bisdas
Jan 17, 2022·Virchows Archiv : an International Journal of Pathology·Kim Van der EeckenJo Van Dorpe
Nov 6, 2021·Annual Review of Pathology·Antonios Papanicolau-Sengos, Kenneth Aldape
Jan 23, 2022·Genes, Chromosomes & Cancer·Xue Qi WangTorsten Owen Nielsen

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Methods Mentioned

BETA
methylation profiling
biopsy
PCR
methylation array
biopsies

Software Mentioned

CopyCaller®

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