Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma

被引：10

作者：

Yang, Kaiwei ^{[1
]}

Hu, Hailong ^{[2
]}

Wu, Junlong ^{[3
]}

Wang, Huina ^{[4
]}

Guo, Zhaoxia ^{[4
]}

Yu, Wei ^{[1
]}

Yao, Lin ^{[1
]}

Ding, Feng ^{[4
]}

Zhou, Tao ^{[4
]}

Wang, Wang ^{[4
]}

Wang, Yunkai ^{[4
]}

Liu, Lei ^{[4
]}

Guo, Jing ^{[4
]}

Zhu, Shuaipeng ^{[4
]}

Zhang, Xinhao ^{[4
]}

Cao, Shanbo ^{[4
]}

Lou, Feng ^{[4
]}

Niu, Yuanjie ^{[2
]}

Ye, Dingwei ^{[3
]}

He, Zhisong ^{[1
]}

机构：

[1] Peking Univ First Hosp, Dept Urol, 8 Xishiku Dajie, Beijing 100034, Peoples R China

[2] Tianjin Med Univ, Dept Urol, Affiliated Hosp 2, Tianjin 300211, Peoples R China

[3] Fudan Univ, Dept Urol, Shanghai Canc Ctr, Shanghai 200032, Peoples R China

[4] Acornmed Biotechnol Co Ltd, Beijing 100176, Peoples R China

来源：

MOLECULAR CANCER | 2023年 / 22卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Urothelial carcinoma; Urine DNA; utLIFE; Early detection; MRD; BLADDER-CANCER; INSTABILITY; DIAGNOSIS;

D O I：

10.1186/s12943-023-01729-7

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Current methods for the early detection and minimal residual disease (MRD) monitoring of urothelial carcinoma (UC) are invasive and/or possess suboptimal sensitivity. We developed an efficient workflow named urine tumor DNA multidimensional bioinformatic predictor (utLIFE). Using UC-specific mutations and large copy number variations, the utLIFE-UC model was developed on a bladder cancer cohort (n = 150) and validated in The Cancer Genome Atlas (TCGA) bladder cancer cohort (n = 674) and an upper tract urothelial carcinoma (UTUC) cohort (n = 22). The utLIFE-UC model could discriminate 92.8% of UCs with 96.0% specificity and was robustly validated in the BLCA_TCGA and UTUC cohorts. Furthermore, compared to cytology, utLIFE-UC improved the sensitivity of bladder cancer detection (p < 0.01). In the MRD cohort, utLIFE-UC could distinguish 100% of patients with residual disease, showing superior sensitivity compared to cytology (p < 0.01) and fluorescence in situ hybridization (FISH, p < 0.05). This study shows that utLIFE-UC can be used to detect UC with high sensitivity and specificity in patients with early-stage cancer or MRD. The utLIFE-UC is a cost-effective, rapid, high-throughput, noninvasive, and promising approach that may reduce the burden of cystoscopy and blind surgery.

引用

页数：7

共 47 条

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