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Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA

SIMPLE SUMMARY: Accurate, non-invasive methods that can diagnose bladder cancer (BC) are needed to detect BC in its early stages and reduce the burden on patients with hematuria. We developed uAL100, a method that accurately diagnoses BC by identifying tumor DNA in urine samples using targeted deep...

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Autores principales: Lee, Dongin, Lee, Wookjae, Kim, Hwang-Phill, Kim, Myong, Ahn, Hyun Kyu, Bang, Duhee, Kim, Kwang Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216686/
https://www.ncbi.nlm.nih.gov/pubmed/37345205
http://dx.doi.org/10.3390/cancers15102868
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author Lee, Dongin
Lee, Wookjae
Kim, Hwang-Phill
Kim, Myong
Ahn, Hyun Kyu
Bang, Duhee
Kim, Kwang Hyun
author_facet Lee, Dongin
Lee, Wookjae
Kim, Hwang-Phill
Kim, Myong
Ahn, Hyun Kyu
Bang, Duhee
Kim, Kwang Hyun
author_sort Lee, Dongin
collection PubMed
description SIMPLE SUMMARY: Accurate, non-invasive methods that can diagnose bladder cancer (BC) are needed to detect BC in its early stages and reduce the burden on patients with hematuria. We developed uAL100, a method that accurately diagnoses BC by identifying tumor DNA in urine samples using targeted deep sequencing. We demonstrate that uAL100 accurately detects putative BC driver mutations in the urine without information about the tumor. ABSTRACT: Patients with hematuria are commonly given an invasive cystoscopy test to detect bladder cancer (BC). To avoid the risks associated with cystoscopy, several urine-based methods for BC detection have been developed, the most prominent of which is the deep sequencing of urine DNA. However, the current methods for urine-based BC detection have significant levels of false-positive signals. In this study, we report on uAL100, a method to precisely detect BC tumor DNA in the urine without tumor samples. Using urine samples from 43 patients with BC and 21 healthy donors, uAL100 detected BC with 83.7% sensitivity and 100% specificity. The mutations identified in the urine DNA by uAL100 for BC detection were highly associated with BC tumorigenesis and progression. We suggest that uAL100 has improved accuracy compared to other urine-based methods for early BC detection and can reduce unnecessary cystoscopy tests for patients with hematuria.
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spelling pubmed-102166862023-05-27 Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA Lee, Dongin Lee, Wookjae Kim, Hwang-Phill Kim, Myong Ahn, Hyun Kyu Bang, Duhee Kim, Kwang Hyun Cancers (Basel) Article SIMPLE SUMMARY: Accurate, non-invasive methods that can diagnose bladder cancer (BC) are needed to detect BC in its early stages and reduce the burden on patients with hematuria. We developed uAL100, a method that accurately diagnoses BC by identifying tumor DNA in urine samples using targeted deep sequencing. We demonstrate that uAL100 accurately detects putative BC driver mutations in the urine without information about the tumor. ABSTRACT: Patients with hematuria are commonly given an invasive cystoscopy test to detect bladder cancer (BC). To avoid the risks associated with cystoscopy, several urine-based methods for BC detection have been developed, the most prominent of which is the deep sequencing of urine DNA. However, the current methods for urine-based BC detection have significant levels of false-positive signals. In this study, we report on uAL100, a method to precisely detect BC tumor DNA in the urine without tumor samples. Using urine samples from 43 patients with BC and 21 healthy donors, uAL100 detected BC with 83.7% sensitivity and 100% specificity. The mutations identified in the urine DNA by uAL100 for BC detection were highly associated with BC tumorigenesis and progression. We suggest that uAL100 has improved accuracy compared to other urine-based methods for early BC detection and can reduce unnecessary cystoscopy tests for patients with hematuria. MDPI 2023-05-22 /pmc/articles/PMC10216686/ /pubmed/37345205 http://dx.doi.org/10.3390/cancers15102868 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lee, Dongin
Lee, Wookjae
Kim, Hwang-Phill
Kim, Myong
Ahn, Hyun Kyu
Bang, Duhee
Kim, Kwang Hyun
Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title_full Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title_fullStr Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title_full_unstemmed Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title_short Accurate Detection of Urothelial Bladder Cancer Using Targeted Deep Sequencing of Urine DNA
title_sort accurate detection of urothelial bladder cancer using targeted deep sequencing of urine dna
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216686/
https://www.ncbi.nlm.nih.gov/pubmed/37345205
http://dx.doi.org/10.3390/cancers15102868
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