Aim: Several urinary hypermethylation-markers (hmDNA) have been described for bladder cancer (BC) detection, but none have been able to replace cystoscopy yet. We systematically reviewed and evaluated current literature on urinary hmDNA markers for BC diagnostics. Patients & methods: A systematic search of PubMed, and The Cochrane Library up to February 2017 using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, was conducted. Results: A total of 30/42 studies included compared gene panels, with varying sensitivities (52-100%) and specificities (0-100%). Considerable heterogeneity across studies was observed and most was case-control studies. Conclusion: Reported diagnostic accuracy of urinary hmDNA for BC detection is highly variable and there is a lack of validation studies. Recent studies indicate that complementary markers are needed to allow for clinical implementation.

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Keywords biomarkers, methylation, molecular diagnostics, neoplasms, urinary bladder, urine analysis
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Journal Epigenomics
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Bosschieter, J. (Judith), Lutz, C. (Catrin), Segerink, L.I. (Loes I), Vis, A.N, Zwarthoff, E.C, van Moorselaar, R.J.A, … Nieuwenhuijzen, J.A. (Jakko A). (2018). The diagnostic accuracy of methylation markers in urine for the detection of bladder cancer: A systematic review. Epigenomics (Vol. 10, pp. 673–687). doi:10.2217/epi-2017-0156