Aim: To analyze the potential of 14 cancer-associated genes, including six miRNAs, for bladder cancer (BC) diagnosis in urine. Patients & methods: DNA methylation levels of 14 genes were analyzed in urine of 72 BC patients and 75 healthy controls using quantitative methylation-specific PCR. Multivariate logistic regression analysis was used to determine an optimal marker panel. Results: Ten genes were significantly hypermethylated in BC patients. The GHSR/MAL combination showed the best diagnostic performance, reaching a sensitivity of 92% (95% CI: 86–99) and a specificity of 85% (95% CI: 76–94). Conclusion: We identified a novel two-gene panel with a high diagnostic accuracy for BC that can be applied in a noninvasive, urine-based test.

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Keywords biomarkersmethylationmolecular diagnosticsurinary bladder neoplasmsurine analysis
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Journal Epigenomics
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Bosschieter, J., Nieuwenhuijzen, J.A., Hentschel, A., van Splunter, AP, Segerink, L.I., Vis, A.N., … Steenbergen, R.D.M. (2019). A two-gene methylation signature for the diagnosis of bladder cancer in urine. Epigenomics, 11(3), 337–347. doi:10.2217/epi-2018-0094