Work

Low-grade non–muscle-invasive urothelial carcinoma of the bladder in a 16-year-old boy with UGT1A1 polymorphism and Gilbert's syndrome: A case report

Year: 2025

Type: article

Abstract: Bladder cancer in the pediatric and adolescent population is exceedingly rare.Genetic susceptibility factors, including polymorphisms in phase II detoxifying enzymes, may play a role in early tumorigenesis. We report the case of a 16-year-old male with recurrent gross hematuria, ultimately diagnosed with low-grade papillary urothelial carcinoma following transurethral resection of bladder tumor (TURBT). Genetic analysis identified a UGT1A1 polymorphism associated with reduced enzymatic activity, a known determinant of impaired detoxification, and the patient had coexistent Gilbert's syndrome. We discuss clinical presentation, management, and the potential correlation between UGT1A1 alterations, Gilbert's syndrome, environmental carcinogen exposure, and bladder carcinogenesis.

Source: Urology Case Reports

DOI: 10.1016/j.eucr.2025.103288