Familial renal oncocytoma: clinicopathological study of 5 families

J Urol. 1998 Aug;160(2):335-40. doi: 10.1016/s0022-5347(01)62888-x.

Abstract

Purpose: We analyzed familial renal oncocytoma to provide a foundation for studies aimed at defining genes involved in the pathogenesis of renal oncocytoma.

Materials and methods: We describe 5 families with multiple members affected with renal oncocytoma. Tumors were analyzed pathologically, and affected and nonaffected members were screened clinically and genetically.

Results: We identified 12 affected male and 3 affected female (ratio 4:1) individuals in the 5 families. In affected family members renal oncocytomas were often multiple and bilateral. No metastatic disease was observed. Most renal oncocytomas were detected incidentally in asymptomatic individuals or during screening of asymptomatic members of renal oncocytoma families. One identical twin pair was affected with bilateral multiple renal oncocytomas.

Conclusions: Renal oncocytoma may be inherited in some families.

MeSH terms

  • Adenoma, Oxyphilic / genetics*
  • Adenoma, Oxyphilic / pathology
  • Adult
  • Aged
  • Aged, 80 and over
  • Blotting, Southern
  • Child
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • Diseases in Twins
  • Female
  • Genes, Tumor Suppressor / genetics
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Mutation / genetics
  • Oncogenes / genetics
  • Pedigree
  • Proto-Oncogenes / genetics
  • Sequence Analysis, DNA
  • Twins, Monozygotic
  • von Hippel-Lindau Disease / genetics

Substances

  • DNA, Neoplasm