Pd48-06 Urine Cellular Dna Methylation and Mutation Test for Detecting Urothelial Carcinoma

You have accessJournal of UrologyBladder Cancer: Non-invasive III (PD48)1 May 2024PD48-06 URINE CELLULAR DNA METHYLATION AND MUTATION TEST FOR DETECTING UROTHELIAL CARCINOMA Yucai Wu, Yanqing Gong, Shiming He, Liqun Zhou, and Xuesong Li Yucai WuYucai Wu , Yanqing GongYanqing Gong , Shiming HeShiming He , Liqun ZhouLiqun Zhou , and Xuesong LiXuesong Li View All Author Informationhttps://doi.org/10.1097/01.JU.0001008712.53259.7d.06AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The preoperative qualitative diagnosis of urothelial carcinoma (UC) is a clinical focus and challenge. Currently, non-invasive urine diagnostic technologies are difficult to provide sufficient evidence and meet clinical needs. The purpose of this study is validating the diagnostic performance of the optimal marker panel (novel methylation marker NRN1 plus TERT C228T and FGFR3 p. S249C mutation) in a prospective, blinded and multicenter clinical trial. METHODS: From March 2022 to January 2023, 164 UC patients, 30 other urological tumor patients and 192 benign disease patients were prospectively enrolled at three centers from China. Using urine cellular DNA point mutation and methylation diagnostic technology developed earlier by qPCR, these patients were assessed for disease and their sensitivity, specificity, and accuracy were calculated. The diagnostic performance of this technology was compared with the commonly used urine cytology and FISH in clinical practice, and validated for recurrence monitoring in a surveillance cohort (n=18) (Figure 1). RESULTS: The DNA methylation rate of UC patients was significantly higher than that of benign patients and other urological tumor patients. Based on the UC diagnostic panel of a methylation marker NRN1 plus TERT and FGFR3 mutation, it had high diagnostic accuracy (91.6%), sensitivity (92.1%), and specificity (91.1%) for UC patients, significantly higher in sensitivity than urine cytology (35.1%) and FISH (57.1%). The sensitivity of this panel in early-stage, low-grade and recurrent patients also reached 90.6%, 81.0% and 85.7%, respectively. When combined with the age parameter to assist diagnosis, the model was optimized, and the AUC value reached 0.935 (Figure 2). CONCLUSIONS: The UC diagnostic model based on the methylation marker NRN1 plus TERT (C228T) and FGFR3 (p. S249C) mutation is a rapid (1-2 days), non-invasive, and highly robust method for UC. Combined with imaging localization diagnosis, it is expected to reduce the number of preoperative endoscopy examinations and improve diagnosis efficiency. Download PPTDownload PPT Source of Funding: This research is supported by grants from the National Natural Science Foundation of China (No. 82273350 and 81872083), the Natural Science Foundation of Beijing (No. 7222190) and the Beijing Municipal Science & Technology Commission Project (No. Z201100005420029) © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e989 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Yucai Wu More articles by this author Yanqing Gong More articles by this author Shiming He More articles by this author Liqun Zhou More articles by this author Xuesong Li More articles by this author Expand All Advertisement PDF downloadLoading ...