Epigenomics · 2026
Ultra-sensitive urine DNA methylation test enables early and accurate detection of bladder cancer.
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Tong Zhichao, Yu Tianxi, Li Zhilong, Zhang Fengming, Shi Qing, Peng Jiaxi, Zhao Yubo, Li Yaowei, Xiu Zhihui, Zhang Zhishuai, Li Benchi, Jiang Weijia, Song Hongjian, Yang Zongzheng, Li Haonan, Guo Pengyu, Hou Dayong, Yin Zhihao, Liu Ziyi, Liu Qi, Wang Jianwei, Zhang Peng, Dai Peng, Wang Yuying, Wang Di, Su Hang, Wang Ziqi
Аннотация
BACKGROUND: Early and accurate detection of bladder cancer (BCa), particularly low-grade and early-stage disease, remains challenging because current diagnostic methods are either invasive or insufficiently sensitive. We aimed to develop a noninvasive urine DNA methylation assay for BCa detection and postoperative monitoring.
RESEARCH DESIGN AND METHODS: Integrative methylation profiling across institutional and public cohorts identified PENK and NKPD1 as urothelial carcinoma-associated hypermethylation markers. A bisulfite-free methylation-sensitive restriction enzyme quantitative polymerase chain reaction (MSRE-qPCR) assay was developed using urine sediment DNA. Diagnostic performance was evaluated in a case-control cohort of 606 urine samples, including 340 pathologically confirmed BCa cases.
RESULTS: The dual-marker assay achieved areas under the curve (AUCs) of 92.52% and 93.00% in the training and validation cohorts, respectively. Sensitivity reached 87.74%, with specificity of 92.31% against benign urological diseases and 83.05% against non-urothelial malignancies. The assay outperformed urine cytology in low-grade tumors and provided complementary diagnostic value when combined with cytology. Postoperative methylation signals significantly decreased after tumor resection (p < 0.001).
CONCLUSIONS: This bisulfite-free urine MSRE-qPCR assay provides a simple and scalable approach for noninvasive BCa detection and surveillance, with strong performance in early-stage and low-grade disease. Further prospective multicenter validation is warranted.
RESEARCH DESIGN AND METHODS: Integrative methylation profiling across institutional and public cohorts identified PENK and NKPD1 as urothelial carcinoma-associated hypermethylation markers. A bisulfite-free methylation-sensitive restriction enzyme quantitative polymerase chain reaction (MSRE-qPCR) assay was developed using urine sediment DNA. Diagnostic performance was evaluated in a case-control cohort of 606 urine samples, including 340 pathologically confirmed BCa cases.
RESULTS: The dual-marker assay achieved areas under the curve (AUCs) of 92.52% and 93.00% in the training and validation cohorts, respectively. Sensitivity reached 87.74%, with specificity of 92.31% against benign urological diseases and 83.05% against non-urothelial malignancies. The assay outperformed urine cytology in low-grade tumors and provided complementary diagnostic value when combined with cytology. Postoperative methylation signals significantly decreased after tumor resection (p < 0.001).
CONCLUSIONS: This bisulfite-free urine MSRE-qPCR assay provides a simple and scalable approach for noninvasive BCa detection and surveillance, with strong performance in early-stage and low-grade disease. Further prospective multicenter validation is warranted.