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000143043 1001_ $$aJaunmuktane, Zane$$b0
000143043 245__ $$aMethylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre.
000143043 260__ $$aLondon$$bBiomed Central$$c2019
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000143043 520__ $$aThe introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with ambiguous histology, non-informative or contradictory molecular profiles or for entities where methylation profiling provides useful information for patient risk stratification, for example in medulloblastoma and ependymoma. We present our experience that combines a conventional molecular diagnostic approach with the complementary use of a DNA methylation-based classification tool, for adult brain tumours originating from local as well as national referrals. We report the frequency of IDH mutations in a large cohort of nearly 1550 patients, EGFR amplifications in almost 1900 IDH-wildtype glioblastomas, and histone mutations in 70 adult gliomas. We demonstrate how additional methylation-based classification has changed and improved our diagnostic approach. Of the 325 cases referred for methylome testing, 179 (56%) had a calibrated score of 0.84 and higher and were included in the evaluation. In these 179 samples, the diagnosis was changed in 45 (25%), refined in 86 (48%) and confirmed in 44 cases (25%). In addition, the methylation arrays contain copy number information that usefully complements the methylation profile. For example, EGFR amplification which is 95% concordant with our Real-Time PCR-based copy number assays. We propose here a diagnostic algorithm that integrates histology, conventional molecular tests and methylation arrays.
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000143043 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b1$$udkfz
000143043 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b2$$udkfz
000143043 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b3$$udkfz
000143043 7001_ $$0P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b$$aSill, Martin$$b4$$udkfz
000143043 7001_ $$aDutt, Monika$$b5
000143043 7001_ $$aSuraweera, Nirosha$$b6
000143043 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b7$$udkfz
000143043 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b8$$udkfz
000143043 7001_ $$00000-0002-9821-0342$$aBrandner, Sebastian$$b9
000143043 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-019-0668-8$$gVol. 7, no. 1, p. 24$$n1$$p24$$tActa Neuropathologica Communications$$v7$$x2051-5960$$y2019
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