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A urine-based liquid biopsy for detection of upper tract urothelial carcinoma: a self-matched study

To establish the pathological diagnosis of UTUC before treatment is profitable. At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer. To evaluate the sensitivity and speci...

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Published in:BMC cancer 2024-09, Vol.24 (1), p.1180-9, Article 1180
Main Authors: Wei, Wei, Fan, Panhong, Zhang, Zhishu, Wu, Danting, Liu, Junfeng, Wang, Lingdian, Duan, Xiaoyu, Zhang, Xiaoli, Ding, Degang
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creator Wei, Wei
Fan, Panhong
Zhang, Zhishu
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Zhang, Xiaoli
Ding, Degang
description To establish the pathological diagnosis of UTUC before treatment is profitable. At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer. To evaluate the sensitivity and specificity of DNA methylation plus 17 genes mutation test and compare the combined test with cytology. We included 45 patients from April 2019 to May 2022, all of whom underwent radical nephroureterectomy (RNU), nephrectomy, diagnostic ureteroscopy or tissue biopsy. Before surgery, the urine samples were collected for DNA methylation plus 17 genes mutation test and cytology. The test performance was calculated, and comparative ROC curves were drawn. The median age of the patients was 67 years. The Kappa value of the DNA methylation plus 17 genes mutation test and tissue pathology was 0.59 (p
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At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer. To evaluate the sensitivity and specificity of DNA methylation plus 17 genes mutation test and compare the combined test with cytology. We included 45 patients from April 2019 to May 2022, all of whom underwent radical nephroureterectomy (RNU), nephrectomy, diagnostic ureteroscopy or tissue biopsy. Before surgery, the urine samples were collected for DNA methylation plus 17 genes mutation test and cytology. The test performance was calculated, and comparative ROC curves were drawn. The median age of the patients was 67 years. The Kappa value of the DNA methylation plus 17 genes mutation test and tissue pathology was 0.59 (p&lt;0.001). The sensitivity/specificity/PPV/NPV of DNA methylation plus 17 genes mutation test was 86/80/94/62% compared with 29/100/100/29% for cytology. The AUC of DNA methylation plus 17 genes mutation test was 0.829 (p&lt;0.001).The mutated gene proportion of UTUC patients was 51.43% for TERT and 25.71% for TP53. The test performance of DNA methylation plus 17 genes mutation test was satisfactory, which may replace cytology in the future. Further multicenter studies with larger samples are needed to confirm the clinical value of this promising method. We evaluated the diagnostic efficacy of a urine-based liquid biopsy for the detection of UTUC and compared the combined test with cytology. We found satisfactory results and concluded that the test could partly replace cytology. 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The Author(s).</rights><rights>COPYRIGHT 2024 BioMed Central Ltd.</rights><rights>2024. This work is licensed under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). 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At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer. To evaluate the sensitivity and specificity of DNA methylation plus 17 genes mutation test and compare the combined test with cytology. We included 45 patients from April 2019 to May 2022, all of whom underwent radical nephroureterectomy (RNU), nephrectomy, diagnostic ureteroscopy or tissue biopsy. Before surgery, the urine samples were collected for DNA methylation plus 17 genes mutation test and cytology. The test performance was calculated, and comparative ROC curves were drawn. The median age of the patients was 67 years. The Kappa value of the DNA methylation plus 17 genes mutation test and tissue pathology was 0.59 (p&lt;0.001). The sensitivity/specificity/PPV/NPV of DNA methylation plus 17 genes mutation test was 86/80/94/62% compared with 29/100/100/29% for cytology. 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At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer. To evaluate the sensitivity and specificity of DNA methylation plus 17 genes mutation test and compare the combined test with cytology. We included 45 patients from April 2019 to May 2022, all of whom underwent radical nephroureterectomy (RNU), nephrectomy, diagnostic ureteroscopy or tissue biopsy. Before surgery, the urine samples were collected for DNA methylation plus 17 genes mutation test and cytology. The test performance was calculated, and comparative ROC curves were drawn. The median age of the patients was 67 years. The Kappa value of the DNA methylation plus 17 genes mutation test and tissue pathology was 0.59 (p&lt;0.001). The sensitivity/specificity/PPV/NPV of DNA methylation plus 17 genes mutation test was 86/80/94/62% compared with 29/100/100/29% for cytology. The AUC of DNA methylation plus 17 genes mutation test was 0.829 (p&lt;0.001).The mutated gene proportion of UTUC patients was 51.43% for TERT and 25.71% for TP53. The test performance of DNA methylation plus 17 genes mutation test was satisfactory, which may replace cytology in the future. Further multicenter studies with larger samples are needed to confirm the clinical value of this promising method. We evaluated the diagnostic efficacy of a urine-based liquid biopsy for the detection of UTUC and compared the combined test with cytology. We found satisfactory results and concluded that the test could partly replace cytology. Further studies are needed.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>39333973</pmid><doi>10.1186/s12885-024-12913-3</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record>
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subjects Aged
Aged, 80 and over
Analysis
Biomarkers, Tumor - urine
Biopsy
Bladder cancer
Carcinoma, Transitional Cell - diagnosis
Carcinoma, Transitional Cell - genetics
Carcinoma, Transitional Cell - pathology
Carcinoma, Transitional Cell - urine
Cellular biology
Cytology
Diagnosis
DNA Methylation
Female
Genes
Hematuria
Humans
Liquid Biopsy - methods
Male
Medical imaging
Methods
Middle Aged
Mutation
Nephrectomy
Nephroureterectomy - methods
p53 Protein
Pathology
Patients
ROC Curve
Sensitivity analysis
Sensitivity and Specificity
Ultrasonic imaging
Upper tract urothelial carcinoma
Ureteroscopy - methods
Urine
Urine sample
Urologic Neoplasms - diagnosis
Urologic Neoplasms - genetics
Urologic Neoplasms - pathology
Urologic Neoplasms - urine
Urothelial carcinoma
title A urine-based liquid biopsy for detection of upper tract urothelial carcinoma: a self-matched study
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