ArticleScientific reports2025
Analysis the diagnostic performance of H4C6/SOX1-OT gene methylation in bladder cancer based on urine sample.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
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7 authors.
Funding
Abstract
Bladder cancer (BCa) is the second most common urological malignancy, but the techniques used today to detect and monitor BCa are frequently invasive and/or have inadequate sensitivity and specificity. Therefore, it is imperative to create a noninvasive test that is both sensitive and accurate for diagnosing BCa. This research introduces and validates the diagnostic performance of H4C6/SOX1-OT gene methylation in the diagnosis of BCa based on urine samples by designing two parts of studies: the case-control study and the prospective validation study. In the case-control study, the methylation test of H4C6/SOX1-OT achieved a sensitivity/specificity/positive predictive value (PPV)/negative predictive value (NPV) of 87.9%(95%CI, 79.4%-93.3%)/90.4%(95%CI, 80.7%-95.7%)/92.6%(95%CI, 84.8%-96.7%)/ 84.6%(95%CI, 74.3%-91.5%) (kappa value 77.6%). The sensitivities for low grade, high grade, Ta-T1, and T2-T4 were 85% (17/20), 88.6% (70/79), 85.4% (41/48) and 92.6% (25/27). Statistical analysis showed the diagnostic sensitivity of test was not affected by sex, age, tumor grade or tumor stage (P > 0.05). In the prospective validation study, the H4C6/SOX1-OT methylation test yielded an overall sensitivity/specificity/PPV/NPV of 84.8%(95%CI, 67.3%-94.3%)/90.0%(95%CI, 75.4%-96.7%)/87.5% (95%CI, 70.1%-95.9%)/84.6% (95%CI, 73.0%-95.4%) (kappa value 75.0%), indicating 38.4% of spared cystoscopy. These findings highlight the potential of the H4C6/SOX1-OT methylation in urine DNA as a promising molecular diagnostic tool for detecting BCa, especially for early-stage tumors, which may reduce the need for cystoscopy.
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