A familial case of renal cell carcinoma and a t(2;3) chromosome translocation

Kidney Int. 1998 Feb;53(2):273-5. doi: 10.1046/j.1523-1755.1998.00762.x.


Cytogenetic analysis was performed on peripheral blood lymphocytes of members of a family with inherited renal cell cancer. Four family members in three generations developed multiple/bilateral renal cell carcinomas of the clear cell type. In one additional case a bladder carcinoma was diagnosed. In two of the renal cell carcinoma patients a constitutional t(2;3)(q35;q21) was encountered, whereas in the two other (deceased) patients the presence of this translocation could be deduced. Also, the bladder cancer patient was found to be positive for t(2;3)(q35;q21). This is the third familial renal cell carcinoma-associated chromosomal translocation ever described. The previously reported cases also involved chromosome 3, thereby supporting the notion that this chromosome may play a crucial role in the development of renal cell carcinomas. Interestingly, the translocation breakpoints in these three families map at different locations, suggesting that multiple genes on chromosome 3 may be involved.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Carcinoma, Renal Cell / genetics*
  • Chromosomes, Human, Pair 2*
  • Chromosomes, Human, Pair 3*
  • Female
  • Humans
  • Karyotyping
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Translocation, Genetic*