A1 Refereed original research article in a scientific journal
Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool
Authors: Priesterbach-Ackley LP, Boldt HB, Petersen JK, Bervoets N, Scheie D, Ulhoi BP, Gardberg M, Brannstrom T, Torp SH, Aronica E, Kusters B, den Dunnen WFA, de Vos FYFL, Wesseling P, de Leng WWJ, Kristensen BW
Publisher: WILEY
Publication year: 2020
Journal: Neuropathology and Applied Neurobiology
Journal name in source: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Journal acronym: NEUROPATH APPL NEURO
Volume: 46
Issue: 5
First page : 478
Last page: 492
Number of pages: 15
ISSN: 0305-1846
eISSN: 1365-2990
DOI: https://doi.org/10.1111/nan.12610
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/47227780
Aims: Methylation profiling (MP) is increasingly incorporated in the diagnostic process of central nervous system (CNS) tumours at our centres in The Netherlands and Scandinavia. We aimed to identify the benefits and challenges of MP as a support tool for CNS tumour diagnostics. Methods: About 502 CNS tumour samples were analysed using (850 k) MP. Profiles were matched with the DKFZ/Heidelberg CNS Tumour Classifier. For each case, the final pathological diagnosis was compared to the diagnosis before MP. Results: In 54.4% (273/502) of all analysed cases, the suggested methylation class (calibrated score >= 0.9) corresponded with the initial pathological diagnosis. The diagnosis of 24.5% of these cases (67/273) was more refined after incorporation of the MP result. In 9.8% of cases (49/502), the MP result led to a new diagnosis, resulting in an altered WHO grade in 71.4% of these cases (35/49). In 1% of cases (5/502), the suggested class based on MP was initially disregarded/interpreted as misleading, but in retrospect, the MP result predicted the right diagnosis for three of these cases. In six cases, the suggested class was interpreted as 'discrepant but noncontributory'. The remaining 33.7% of cases (169/502) had a calibrated score <0.9, including 7.8% (39/502) for which no class indication was given at all (calibrated score <0.3). Conclusions: MP is a powerful tool to confirm and fine-tune the pathological diagnosis of CNS tumours, and to avoid misdiagnoses. However, it is crucial to interpret the results in the context of clinical, radiological, histopathological and other molecular information.
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