Pd41-10 Urological Follow-Up of Lynch Syndrome: Utuc Incidence and Mutational Patterns in a Dedicated Outpatient Clinic

You have accessJournal of UrologyBladder Cancer: Upper Tract Transitional Cell Carcinoma III (PD41)1 May 2024PD41-10 UROLOGICAL FOLLOW-UP OF LYNCH SYNDROME: UTUC INCIDENCE AND MUTATIONAL PATTERNS IN A DEDICATED OUTPATIENT CLINIC Pietro Scilipoti, Francesco Cattafi, Mattia Longoni, Mario De Angelis, Chiara Re, Leonardo Quarta, Alessandro Bertini, Giusy Burgio, Giulio Avesani, Giuseppe Rosiello, Giorgio Gandaglia, Umberto Capitanio, Andrea Salonia, Francesco Montorsi, and Marco Moschini Pietro ScilipotiPietro Scilipoti , Francesco CattafiFrancesco Cattafi , Mattia LongoniMattia Longoni , Mario De AngelisMario De Angelis , Chiara ReChiara Re , Leonardo QuartaLeonardo Quarta , Alessandro BertiniAlessandro Bertini , Giusy BurgioGiusy Burgio , Giulio AvesaniGiulio Avesani , Giuseppe RosielloGiuseppe Rosiello , Giorgio GandagliaGiorgio Gandaglia , Umberto CapitanioUmberto Capitanio , Andrea SaloniaAndrea Salonia , Francesco MontorsiFrancesco Montorsi , and Marco MoschiniMarco Moschini View All Author Informationhttps://doi.org/10.1097/01.JU.0001008568.76803.f1.10AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Lynch Syndrome (LS) is an autosomal dominant genetic disorder linked to various cancers, with Upper Tract Urothelial Carcinoma (UTUC) being the third most common manifestation. This study presents findings from our dedicated Lynch Syndrome outpatient urological clinic, aiming to assess UTUC occurrence, mutational patterns, and follow-up strategies for LS patients. METHODS: From 2021 to 2023, we observed 30 LS patients at a specialized tertiary referral center. We collected data on LS mutations, medical and family histories, and initiated a rigorous follow-up protocol. Genetic diagnoses were established through immunohistochemistry (IHC) and DNA sequencing. We assessed concordance with Bethesda, EAU guidelines, Amsterdam I, and Amsterdam II criteria. The follow-up involved biennial Ultrasound (US), urinalysis, and urinary cytology. In high-risk cases (age >50 years, MSH2 mutations, family UTUC history), we alternated CT-scans with US annually. RESULTS: Of patients, 53% (n=16) received their LS diagnosis post-cancer, while 47% (n=14) were identified via genetic counseling after degree relative diagnosis. Median time after LS diagnosis was 86 (IQR 32-118) months. Our cohort included 11 colorectal cancer cases (36%), 4 UTUC (13%), and others with endometrial, gastric, skin cancer, and rare LS-related cancers. MSH2 mutations were found in 48% (n=14), MLH1 in 31% (n=9). MSH2 was common in colorectal cancer (36%) but had greater incidence in UTUC (50%). Median age at UTUC diagnosis was 60 years, surpassing colorectal cancer (49 years, p=0.007). Bethesda and EAU guidelines showed higher accuracy (86% and 89%) than Amsterdam I/II (60%). During the observational time, no new tumor diagnosis was made. CONCLUSIONS: The establishment of a dedicated Lynch Syndrome clinic over the past two years has yielded valuable insights into common mutations. These findings have the potential to play a pivotal role in developing mutation-specific follow-up protocols and to enhance earlier UTUC diagnosis among this particular population. Source of Funding: - © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e890 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Pietro Scilipoti More articles by this author Francesco Cattafi More articles by this author Mattia Longoni More articles by this author Mario De Angelis More articles by this author Chiara Re More articles by this author Leonardo Quarta More articles by this author Alessandro Bertini More articles by this author Giusy Burgio More articles by this author Giulio Avesani More articles by this author Giuseppe Rosiello More articles by this author Giorgio Gandaglia More articles by this author Umberto Capitanio More articles by this author Andrea Salonia More articles by this author Francesco Montorsi More articles by this author Marco Moschini More articles by this author Expand All Advertisement PDF downloadLoading ...