(UroToday.com) The 2024 European Association of Urology (EAU) annual meeting featured a session on navigating urothelial carcinoma from innovative diagnostics to therapeutic strategies, and a presentation by Dr. Federica Cattani discussing upper tract urothelial carcinoma incidence and mutational patterns among urological follow-up of Lynch Syndrome. Lynch Syndrome is an autosomal dominant genetic disorder linked to various cancers, with upper tract urothelial carcinoma being the third most common manifestation. This study, presented at EAU 2024, reports findings from a dedicated Lynch Syndrome outpatient urological clinic at IRCCS Ospedale San Raffaele, aiming to assess upper tract urothelial carcinoma occurrence, mutational patterns, and follow-up strategies for these patients.
From 2021 to 2023, there were 30 Lynch Syndrome patients at this tertiary referral specialized clinic. Data was collected for Lynch Syndrome mutations, medical and family histories, with the implementation of a rigorous follow-up protocol. Genetic diagnoses were established through immunohistochemistry and DNA sequencing. Dr. Cattani and colleagues assessed concordance with Bethesda, EAU guidelines, Amsterdam I, and Amsterdam II criteria. The follow-up involved biennial ultrasound, urinalysis, and urinary cytology. In high-risk cases (age >50 years, MSH2 mutations, family upper tract urothelial carcinoma history), there were alternating CT-scans with ultrasound annually.
Among these patients, 53% (n = 16) received their Lynch Syndrome diagnosis post-cancer, while 47% (n = 14) were identified via genetic counseling after degree of relative diagnosis. The median time after Lynch Syndrome diagnosis was 86 (IQR 32-118) months:
This cohort included 11 colorectal cancer cases (36%), 4 upper tract urothelial carcinoma (13%), and others with endometrial, gastric, skin cancer, and rare Lynch Syndrome-related cancers. MSH2 mutations were found in 48% (n = 14) and MLH1 in 31% (n = 9). MSH2 was common in colorectal cancer (36%) but had greater incidence in upper tract urothelial carcinoma (50%):
The median age at upper tract urothelial carcinoma 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 diagnoses were made.
Dr. Cattani concluded his presentation by discussing upper tract urothelial carcinoma incidence and mutational patterns among urological follow-up of Lynch Syndrome patients by noting that the establishment of a dedicated Lynch Syndrome clinic over the past two years has yielded valuable insights into common mutations. This has the potential to play a pivotal role in developing mutation-specific follow-up protocols and to enhance earlier upper tract urothelial carcinoma diagnosis among this population.
Presented by: Federica Cattani, IRCCS Ospedale San Raffaele, Milan, Italy
Written by: Zachary Klaassen, MD, MSc – Urologic Oncologist, Associate Professor of Urology, Georgia Cancer Center, Wellstar MCG Health, @zklaassen_md on Twitter during the 2024 European Association of Urology (EAU) annual congress, Paris, France, April 5th - April 8th, 2024