作者
Jonathan C Dudley, Joseph Schroers-Martin, Daniel V Lazzareschi, William Y Shi, Simon B Chen, Mohammad S Esfahani, Dharati Trivedi, Jacob J Chabon, Aadel A Chaudhuri, Henning Stehr, Chih Long Liu, Harumi Lim, Helio A Costa, Barzin Y Nabet, Mandy LY Sin, Joseph C Liao, Ash A Alizadeh, Maximilian Diehn
发表日期
2019/4/1
期刊
Cancer discovery
卷号
9
期号
4
页码范围
500-509
出版商
American Association for Cancer Research
简介
Current regimens for the detection and surveillance of bladder cancer are invasive and have suboptimal sensitivity. Here, we present a novel high-throughput sequencing (HTS) method for detection of urine tumor DNA (utDNA) called utDNA CAPP-Seq (uCAPP-Seq) and apply it to 67 healthy adults and 118 patients with early-stage bladder cancer who had urine collected either prior to treatment or during surveillance. Using this targeted sequencing approach, we detected a median of 6 mutations per patient with bladder cancer and observed surprisingly frequent mutations of the PLEKHS1 promoter (46%), suggesting these mutations represent a useful biomarker for detection of bladder cancer. We detected utDNA pretreatment in 93% of cases using a tumor mutation–informed approach and in 84% when blinded to tumor mutation status, with 96% to 100% specificity. In the surveillance setting, we …
引用总数
201920202021202220232024132249253618
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JC Dudley, J Schroers-Martin, DV Lazzareschi, WY Shi… - Cancer discovery, 2019