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| 001 | 143043 | ||
| 005 | 20240229112540.0 | ||
| 024 | 7 | _ | |a 10.1186/s40478-019-0668-8 |2 doi |
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| 100 | 1 | _ | |a Jaunmuktane, Zane |b 0 |
| 245 | _ | _ | |a Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre. |
| 260 | _ | _ | |a London |c 2019 |b Biomed Central |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 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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| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 2 |u dkfz |
| 700 | 1 | _ | |a Schrimpf, Daniel |0 P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc |b 3 |u dkfz |
| 700 | 1 | _ | |a Sill, Martin |0 P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b |b 4 |u dkfz |
| 700 | 1 | _ | |a Dutt, Monika |b 5 |
| 700 | 1 | _ | |a Suraweera, Nirosha |b 6 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 7 |u dkfz |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 8 |u dkfz |
| 700 | 1 | _ | |a Brandner, Sebastian |0 0000-0002-9821-0342 |b 9 |
| 773 | _ | _ | |a 10.1186/s40478-019-0668-8 |g Vol. 7, no. 1, p. 24 |0 PERI:(DE-600)2715589-4 |n 1 |p 24 |t Acta Neuropathologica Communications |v 7 |y 2019 |x 2051-5960 |
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