Synchronous Urothelial Bladder and Renal Malignancies. Case Report and Review of Urologic Cancers in Patients With Familial Rb Mutations

Urology. 2019 Sep:131:89-92. doi: 10.1016/j.urology.2019.05.026. Epub 2019 May 31.

Abstract

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 predispose patients to several urologic malignancies.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Humans
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics*
  • Leiomyosarcoma / diagnosis
  • Leiomyosarcoma / genetics*
  • Male
  • Mutation*
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / genetics*
  • Retinoblastoma Protein / genetics*
  • Urinary Bladder Neoplasms / diagnosis
  • Urinary Bladder Neoplasms / genetics*

Substances

  • Retinoblastoma Protein