Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation

Urology. 2005 Dec;66(6):1320. doi: 10.1016/j.urology.2005.06.122.

Abstract

Von Hippel-Lindau disease (VHL) is a rare genetic disease with a lifetime risk of clear cell renal cell carcinoma in approximately 70% of cases. We present a case of a 63-year-old man with bilateral, multifocal renal masses. Genetic testing results were consistent with a VHL deletion. The patient had no other disease manifestations consistent with VHL. The patient underwent staged bilateral nephron-sparing procedures. Pathology of all renal masses revealed oncocytoma. To our knowledge, we describe the first reported case of multiple renal oncocytomas in a male patient with a germline VHL mutation.

Publication types

  • Case Reports

MeSH terms

  • Adenoma, Oxyphilic / genetics*
  • Humans
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutation
  • von Hippel-Lindau Disease / genetics*