Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre
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 informa...
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| Main Authors: | , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
20 February 2019
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| In: |
Acta Neuropathologica Communications
Year: 2019, Volume: 7, Pages: 1-18 |
| ISSN: | 2051-5960 |
| DOI: | 10.1186/s40478-019-0668-8 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1186/s40478-019-0668-8
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| Author Notes: | Zane Jaunmuktane, David Capper, David T.W. Jones, Daniel Schrimpf, Martin Sill, Monika Dutt, Nirosha Suraweera, Stefan M. Pfister, Andreas von Deimling and Sebastian Brandner |
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| 520 | |a 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 that usefully complements the methylation profile. For example, EGFR amplification which is 95% concordant with our Real-Time PCR-based copy number assays. We propose here a diagnostic algorithm that integrates histology, conventional molecular tests and methylation arrays. | ||
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