Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is a genetic condition predisposing individuals to several malignancies, including colorectal, endometrial, and urothelial cancers. Urothelial carcinoma (UC) is a significant yet often overlooked cancer in LS patients, as they have an increased lifetime risk of developing UC, particularly in the renal pelvis and bladder. Despite this elevated risk, standardized screening protocols for urothelial cancer in Lynch syndrome remain underdeveloped. This abstract aims to review the evidence on urothelial cancer risk in Lynch syndrome and assess the current approaches to screening and early detection.

A comprehensive review of existing literature and clinical studies was conducted to evaluate the incidence of urothelial cancer in Lynch syndrome patients and explore current screening practices. Databases including PubMed, Scopus, and Google Scholar were queried for studies published between 2000 and 2023. Criteria included studies reporting on Lynch syndrome cohorts, their associated urothelial cancer incidence, and the effectiveness of different screening modalities, such as cystoscopy, urine cytology, and imaging. Evidence on the impact of early detection on survival outcomes was also reviewed.

Urothelial cancer is found to occur at a significantly higher rate in patients with Lynch syndrome compared to the general population. Studies indicate that patients with LS have a lifetime risk of developing urothelial carcinoma ranging from 5% to 10%, with increased susceptibility in the renal pelvis and upper urinary tract. Current screening strategies are largely inconsistent, with no universally accepted protocol. Some studies recommend annual cystoscopy, while others suggest the use of imaging and urinary biomarkers. Additionally, early detection of urothelial cancer in Lynch syndrome has shown promise in improving prognosis, as these cancers tend to present at an earlier stage compared to sporadic cases. However, there remains a lack of consensus on the optimal screening age and frequency, and further research is required to determine the most effective methods.

Urothelial cancer screening in Lynch syndrome patients is an underemphasized area of clinical care, despite the elevated risk these individuals face. While current screening strategies are inconsistent, there is growing evidence supporting the value of early detection in improving patient outcomes. A standardized, evidence-based approach to urothelial cancer screening in Lynch syndrome is urgently needed, with further research required to optimize screening tools and protocols. Tailored screening strategies, incorporating both invasive and non-invasive methods, could offer a way forward in addressing this gap in care, ensuring that at-risk patients are monitored effectively and diagnosed at an earlier, more treatable stage.