PMID- 37793040 OWN - NLM STAT- MEDLINE DCOM- 20240202 LR - 20240206 IS - 1943-7722 (Electronic) IS - 0002-9173 (Linking) VI - 161 IP - 2 DP - 2024 Feb 1 TI - Comparison of DNA methylation and cytology tests in urine to detect upper tract urothelial carcinoma: A paired-design diagnostic study. PG - 115-121 LID - 10.1093/ajcp/aqad116 [doi] AB - OBJECTIVES: To evaluate the diagnostic efficacy of a DNA methylation test, compare that test with cytology alone, fluorescence in situ hybridization (FISH) alone, and cytology plus FISH, and explore reasons that may influence the accuracy of liquid biopsy. METHODS: We included 37 patients and 12 negative control individuals between April 2019 and May 2022. All patients had undergone radical nephroureterectomy, nephrectomy, diagnostic ureteroscopy, or tissue biopsy. Urine samples were collected for DNA methylation testing, cytology, and FISH. Test performance was calculated, and receiver operating characteristic curves were drawn for comparison. RESULTS: Median patient age was 66 years, and kappa = 0.576 (P < .001) for the DNA methylation test and tissue pathology. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the DNA methylation test were 76%, 100%, 100%, and 74%, respectively, compared with 31%, 100%, 100%, and 50%, respectively, for cytology. The sensitivity, specificity, PPV, and NPV of cytology plus FISH were 66%, 100%, 100%, and 67%, respectively. The area under the curve (AUC) of the DNA methylation test was 0.879 (P < .001), and the AUC of cytology plus FISH was 0.828 (P < .001). CONCLUSIONS: The test performance of DNA methylation was satisfactory. The DNA methylation test for the detection of upper tract urothelial carcinoma demonstrated better sensitivity than did cytology alone or cytology with FISH, but the accuracy of the combined tests was still acceptable. Further prospective studies with larger samples are needed to confirm the clinical value of this promising method. CI - (c) The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. FAU - Wei, Wei AU - Wei W AUID- ORCID: 0000-0002-3427-2122 AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Wu, Danting AU - Wu D AD - Department of Pathology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Zhang, Zhishu AU - Zhang Z AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Liu, Junfeng AU - Liu J AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Deng, Jun AU - Deng J AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Zhang, Xiaoli AU - Zhang X AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. FAU - Ding, Degang AU - Ding D AD - Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China. LA - eng PT - Journal Article PL - England TA - Am J Clin Pathol JT - American journal of clinical pathology JID - 0370470 SB - IM MH - Humans MH - Aged MH - *Carcinoma, Transitional Cell/pathology MH - *Urinary Bladder Neoplasms/pathology MH - DNA Methylation MH - In Situ Hybridization, Fluorescence/methods MH - Prospective Studies MH - Sensitivity and Specificity OTO - NOTNLM OT - DNA methylation OT - cytology OT - fluorescence in situ hybridization OT - upper tract urothelial carcinoma OT - urine sample EDAT- 2023/10/04 18:42 MHDA- 2024/02/02 06:43 CRDT- 2023/10/04 15:13 PHST- 2023/06/09 00:00 [received] PHST- 2023/08/15 00:00 [accepted] PHST- 2024/02/02 06:43 [medline] PHST- 2023/10/04 18:42 [pubmed] PHST- 2023/10/04 15:13 [entrez] AID - 7289073 [pii] AID - 10.1093/ajcp/aqad116 [doi] PST - ppublish SO - Am J Clin Pathol. 2024 Feb 1;161(2):115-121. doi: 10.1093/ajcp/aqad116.