We present a urologic case report associated with retinoblastoma (RB1) mutation. A 65-year-old man, who has a history of bilateral retinoblastoma treated with primary radiation therapy at approximately 1 year of age. He presented with a 3-month history of gross hematuria and, on initial workup, was found to have synchronous renal and urothelial malignancies. The patient underwent complete transurethral resection of high grade Ta urothelial cancer and robotic-assisted partial nephrectomy for a pT3a leiomyosarcoma. He remains responsive to Bacillus Calmette-Guerin, and shows no recurrence of his renal malignancy. Through targeted sequencing, Rb mutations can pre-dispose patients to several urologic malignancies.
Urology. 2019 May 31 [Epub ahead of print]
Gabriel Leinwand, Jacob W Greenberg, Andrew B Sholl, Louis S Krane
Departments of Urology, Tulane University School of Medicine, New Orleans, LA., Departments of Pathology, Tulane University School of Medicine, New Orleans, LA., Departments of Urology, Tulane University School of Medicine, New Orleans, LA. Electronic address: .