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

Abstract 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-specifi...

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Main Authors: Kaiwei Yang, Hailong Hu, Junlong Wu, Huina Wang, Zhaoxia Guo, Wei Yu, Lin Yao, Feng Ding, Tao Zhou, Wang Wang, Yunkai Wang, Lei Liu, Jing Guo, Shuaipeng Zhu, Xinhao Zhang, Shanbo Cao, Feng Lou, Yuanjie Niu, Dingwei Ye, Zhisong He
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Molecular Cancer
Subjects:
Online Access:https://doi.org/10.1186/s12943-023-01729-7
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author Kaiwei Yang
Hailong Hu
Junlong Wu
Huina Wang
Zhaoxia Guo
Wei Yu
Lin Yao
Feng Ding
Tao Zhou
Wang Wang
Yunkai Wang
Lei Liu
Jing Guo
Shuaipeng Zhu
Xinhao Zhang
Shanbo Cao
Feng Lou
Yuanjie Niu
Dingwei Ye
Zhisong He
author_facet Kaiwei Yang
Hailong Hu
Junlong Wu
Huina Wang
Zhaoxia Guo
Wei Yu
Lin Yao
Feng Ding
Tao Zhou
Wang Wang
Yunkai Wang
Lei Liu
Jing Guo
Shuaipeng Zhu
Xinhao Zhang
Shanbo Cao
Feng Lou
Yuanjie Niu
Dingwei Ye
Zhisong He
author_sort Kaiwei Yang
collection DOAJ
description Abstract 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.
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spelling doaj.art-c84f7d7d90684ce0b97ac947c17fe31b2023-02-05T12:06:11ZengBMCMolecular Cancer1476-45982023-02-012211710.1186/s12943-023-01729-7Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinomaKaiwei Yang0Hailong Hu1Junlong Wu2Huina Wang3Zhaoxia Guo4Wei Yu5Lin Yao6Feng Ding7Tao Zhou8Wang Wang9Yunkai Wang10Lei Liu11Jing Guo12Shuaipeng Zhu13Xinhao Zhang14Shanbo Cao15Feng Lou16Yuanjie Niu17Dingwei Ye18Zhisong He19Department of Urology, Peking University First HospitalDepartment of Urology, The Second Affiliated Hospital of Tianjin Medical UniversityDepartment of Urology, Fudan University Shanghai Cancer CenterAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdDepartment of Urology, Peking University First HospitalDepartment of Urology, Peking University First HospitalAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdAcornmed Biotechnology Co., LtdDepartment of Urology, The Second Affiliated Hospital of Tianjin Medical UniversityDepartment of Urology, Fudan University Shanghai Cancer CenterDepartment of Urology, Peking University First HospitalAbstract 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.https://doi.org/10.1186/s12943-023-01729-7Urothelial carcinomaUrine DNAutLIFEEarly detectionMRD
spellingShingle Kaiwei Yang
Hailong Hu
Junlong Wu
Huina Wang
Zhaoxia Guo
Wei Yu
Lin Yao
Feng Ding
Tao Zhou
Wang Wang
Yunkai Wang
Lei Liu
Jing Guo
Shuaipeng Zhu
Xinhao Zhang
Shanbo Cao
Feng Lou
Yuanjie Niu
Dingwei Ye
Zhisong He
Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
Molecular Cancer
Urothelial carcinoma
Urine DNA
utLIFE
Early detection
MRD
title Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
title_full Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
title_fullStr Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
title_full_unstemmed Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
title_short Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
title_sort letter to the editor clinical utility of urine dna for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma
topic Urothelial carcinoma
Urine DNA
utLIFE
Early detection
MRD
url https://doi.org/10.1186/s12943-023-01729-7
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