PD46-01 DETECTION OF INDIVIDUALIZED MUTATIONS AND MONITORING OF POSTOPERATIVE RECURRENCE USING CIRCULATING TUMOR DNA IN PATIENTS WITH UPPER TRACT UROTHELIAL CARCINOMA

Abstract

You have accessJournal of UrologyCME1 Apr 2023PD46-01 DETECTION OF INDIVIDUALIZED MUTATIONS AND MONITORING OF POSTOPERATIVE RECURRENCE USING CIRCULATING TUMOR DNA IN PATIENTS WITH UPPER TRACT UROTHELIAL CARCINOMA Daichi Tamura, Masakazu Abe, Daiki Ikarashi, Renpei Kato, Yoichiro Kato, Shigekatsu Maekawa, Mitsugu Kanehira, Ryo Takata, Yutaka Suzuki, Hidewaki Nakagawa, Satoshi Nishizuka, and Wataru Obara Daichi TamuraDaichi Tamura More articles by this author , Masakazu AbeMasakazu Abe More articles by this author , Daiki IkarashiDaiki Ikarashi More articles by this author , Renpei KatoRenpei Kato More articles by this author , Yoichiro KatoYoichiro Kato More articles by this author , Shigekatsu MaekawaShigekatsu Maekawa More articles by this author , Mitsugu KanehiraMitsugu Kanehira More articles by this author , Ryo TakataRyo Takata More articles by this author , Yutaka SuzukiYutaka Suzuki More articles by this author , Hidewaki NakagawaHidewaki Nakagawa More articles by this author , Satoshi NishizukaSatoshi Nishizuka More articles by this author , and Wataru ObaraWataru Obara More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003359.01AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Upper tract urothelial carcinoma (UTUC) is an aggressive disease which have high recurrence after surgery. Current standard methods for the diagnosis and detection of recurrence are invasive or low sensitivity. Circulating tumor DNA (ctDNA) analysis using digital polymerase chain reaction (dPCR) has demonstrated promising results for monitoring as recurrence in several cancers. The aim of this study was to evaluate the validity of plasma and urinary ctDNA as a tumor biomarker for UTUC among a perioperative period. METHODS: This study included 23 patients who underwent radical nephroureterectomy (RNU) diagnosed as UTUC from January 2019 to December 2020. In each patient, whole exome sequencing (WES) of tumor DNA and corresponding peripheral blood mononuclear cell (PBMC) DNA were performed by next generation sequencer (NGS). To investigate ctDNA by dPCR analysis, we selected tumor specific gene mutations included in our original primer-probe library. We also collected plasma and urine ctDNA from each patient. Longitudinal variant allele frequency (VAF) of ctDNA were plot on a pre- and post-operative period. RESULTS: The median age was 71 years old (range 57-82). 13 cases were renal pelvis cancer, and 10 cases were ureteral cancer. Most frequently mutated genes revealed by tumor DNA analysis using NGS were TERT (43%), KMT2D (35%), TTN (30%), FGFR3 (26%), and TP53 (26%). 17 cases (74%) could be performed ctDNA monitoring by our primer-probe library. Tumor specific mutations were detected in preoperative samples in 15 cases. Tumor specific mutations were not detected in two cases who were ypT0 due to neoadjuvant chemotherapy. Six cases experienced recurrence after RNU, five of which showed increase of VAFs of ctDNA. CONCLUSIONS: ctDNA analysis using dPCR could detect tumor specific mutations in majority of patients with UTUC. Individualized ctDNA monitoring could be a useful biomarker for postoperative recurrence. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e1169 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Daichi Tamura More articles by this author Masakazu Abe More articles by this author Daiki Ikarashi More articles by this author Renpei Kato More articles by this author Yoichiro Kato More articles by this author Shigekatsu Maekawa More articles by this author Mitsugu Kanehira More articles by this author Ryo Takata More articles by this author Yutaka Suzuki More articles by this author Hidewaki Nakagawa More articles by this author Satoshi Nishizuka More articles by this author Wataru Obara More articles by this author Expand All Advertisement PDF downloadLoading ...