The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Detection and Surveillance of Bladder Cancer Using Urine Tumor DNA
Open accessAbstract
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 detected utDNA in 91% of patients who ultimately recurred, with utDNA detection preceding clinical progression in 92% of cases. uCAPP-Seq outperformed a commonly used ancillary test (UroVysion, P = 0.02) and cytology and cystoscopy combined (P ≤ 0.006), detecting 100% of bladder cancer cases detected by cytology and 82% that cytology missed. Our results indicate that uCAPP-Seq is a promising approach for early detection and surveillance of bladder cancer. Significance: This study shows that utDNA can be detected using HTS with high sensitivity and specificity in patients with early-stage bladder cancer and during post-treatment surveillance, significantly outperforming standard diagnostic modalities and facilitating noninvasive detection, genotyping, and monitoring. This article is highlighted in the In This Issue feature, p. 453
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Cites
Comprehensive molecular characterization of urothelial bladder carcinoma
Perou, C. M. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/za09-dk57 · Cited by 2,990
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer
Robertson, A. G., Kim, J., Al-Ahmadie, H., Bellmunt, J., Guo, G., Cherniack, A. D., Hinoue, T., Laird, P. W., Hoadley, K. A., Akbani, R., et al. (2017) · Cell · doi:10.1016/j.cell.2017.09.007 · Cited by 2,443
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
Newman, A. M., Bratman, S. V., To, J., Wynne, J. F., Eclov, N. C. W., Modlin, L. A., Liu, C. L., Neal, J. W., Wakelee, H. A., Merritt, R. E., et al. (2014) · Nature Medicine · doi:10.1038/nm.3519 · Cited by 2,220
Self-citationTie, J., Wang, Y., Tomasetti, C., Li, L., Springer, S., Kinde, I., Silliman, N., Tacey, M., Wong, H.-L., Christie, M., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf6219 · Cited by 1,492
Molecular biology of bladder cancer: new insights into pathogenesis and clinical diversity
Knowles, M. A., & Hurst, C. D. (2015) · Nature Reviews Cancer · doi:10.1038/nrc3817 · Cited by 1,247
Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer
Garcia-Murillas, I., Schiavon, G., Weigelt, B., Ng, C., Hrebien, S., Cutts, R. J., Cheang, M., Osin, P., Nerurkar, A., Kozarewa, I., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aab0021 · Cited by 1,150
Integrated digital error suppression for improved detection of circulating tumor DNA
Newman, A. M., Lovejoy, A. F., Klass, D. M., Kurtz, D. M., Chabon, J. J., Scherer, F., Stehr, H., Liu, C. L., Bratman, S. V., Say, C., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3520 · Cited by 1,099
Self-citationChaudhuri, A. A., Chabon, J. J., Lovejoy, A. F., Newman, A. M., Stehr, H., Azad, T. D., Khodadoust, M. S., Esfahani, M. S., Liu, C. L., Zhou, L., et al. (2017) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0716 · Cited by 1,072
Self-citationSomatic ERCC2 Mutations Correlate with Cisplatin Sensitivity in Muscle-Invasive Urothelial Carcinoma
Van Allen, E. M., Mouw, K. W., Kim, P., Iyer, G., Wagle, N., Al-Ahmadie, H., Zhu, C., Ostrovnaya, I., Kryukov, G. V., O'Connor, K. W., et al. (2014) · Cancer Discovery · doi:10.1158/2159-8290.cd-14-0623 · Cited by 620
Genome-wide analysis of noncoding regulatory mutations in cancer
Weinhold, N., Jacobsen, A., Schultz, N., Sander, C., & Lee, W. (2014) · Nature Genetics · doi:10.1038/ng.3101 · Cited by 484
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Circulating tumour DNA — looking beyond the blood
Tivey, A., Church, M., Rothwell, D., Dive, C., & Cook, N. (2022) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-022-00660-y · Cited by 321
Zhang, J.-T., Liu, S.-Y., Gao, W., Liu, S.-Y. M., Yan, H.-H., Ji, L., Chen, Y., Gong, Y., Lu, H.-L., Lin, J.-T., et al. (2022) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-1486 · Cited by 228
Detection of Solid Tumor Molecular Residual Disease (MRD) Using Circulating Tumor DNA (ctDNA)
Chin, R.-I., Chen, K., Usmani, A., Chua, C., Harris, P. K., Binkley, M. S., Azad, T. D., Dudley, J. C., & Chaudhuri, A. A. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00390-5 · Cited by 191
Self-citationUrinary Biomarkers for Neurodegenerative Diseases
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Metadata
- Authors
- Dudley, J. C., Schroers-Martin, J., Lazzareschi, D. V., Shi, W. Y., Chen, S. B., Esfahani, M. S., Trivedi, D., Chabon, J. J., Chaudhuri, A. A., Stehr, H., Liu, C. L., Lim, H., Costa, H. A., Nabet, B. Y., Sin, M. L. Y., Liao, J. C., Alizadeh, A. A., & Diehn, M.
- Venue
- Cancer Discovery
- Published
- 2019-04-01
- Volume
- 9
- Issue
- 4
- Pages
- 500-509
- ISSN
- 2159-8274 (ISSN-L)
- 2159-8290
- OpenAlex
- W2906216049
- Cited by
- 253
- References
- 21
- FWCI
- 5.69
- Type
- journal article
- Language
- en
- Open access
- green
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- Dudley, J. C., Schroers-Martin, J., Lazzareschi, D. V., Shi, W. Y., Chen, S. B., Esfahani, M. S., Trivedi, D., Chabon, J. J., Chaudhuri, A. A., Stehr, H., Liu, C. L., Lim, H., Costa, H. A., Nabet, B. Y., Sin, M. L. Y., Liao, J. C., Alizadeh, A. A., & Diehn, M. (2019). Detection and Surveillance of Bladder Cancer Using Urine Tumor DNA. Cancer Discovery. https://doi.org/10.1158/2159-8290.cd-18-0825
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