Bladder cancer`s genetic Tapestry: Insights from two Cases with Ataxia Telangiectasia Mutated Gene Alterations

Abstract Introduction/Objective Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and is common in several tumor types including bladder cancer. The specific impact of ATM alterations on prognosis and therapy response in bladder cancer is uncertain. However, some data suggests shorter overall survival and benefit in patients treated with immune checkpoint inhibitors. This abstract explores the clinicopathologic features of two young patients of bladder cancer, harboring the ATM gene mutation. Methods/Case Report The institutional database was searched for diagnosis of urothelial carcinoma from January 2020 to December 2023. Only patients under the age of 30 years were included. Two cases were identified. Data such as patient age, gender, clinical history and presentation, histologic features, and gene mutations were collected. Results (if a Case Study enter NA) One patient was a 21-year-old male who presented with hematuria and the other was 17-year-old female who presented for work up vaginal bleeding. Both were non-smokers and had no family history of bladder cancer. Cystoscopy showed papillary tumors in both patients and TURBT specimens showing low grade non-invasive urothelial carcinoma in both patients. Genetic testing revealed ATM mutation in both patients. The male patient had recurrent disease twice and received intravesical BCG therapy, the female patient remains without recurrence 12 months later. Both patients remain under surveillance cystoscopy every three months. Conclusion These cases contribute to the growing body of evidence emphasizing the need for personalized therapeutic approaches and further research to unravel the complexities of bladder cancer in the context of ATM gene mutation among young patients.