Clinical and genetic studies of renal cell carcinomas in a family with a constitutional chromosome 3;8 translocation. Genetics of familial renal carcinoma

Ann Intern Med. 1993 Jan 15;118(2):106-11. doi: 10.7326/0003-4819-118-2-199301150-00005.


Objective: To describe the clinical course and genetic studies of renal carcinoma in members of a family with the constitutional chromosome translocation, t(3;8) (p14;q24).

Design: A follow-up study that updates our 1979 report of renal carcinoma in 10 of these relatives.

Setting: A cancer center and university hospital.

Patients: Members of the family, including five carriers of the 3;8 translocation who were in remission of renal cancer.

Measurements: Clinical follow-up of the family and genetic analyses of the renal cancer specimens of three patients.

Results: Renal carcinoma recurred in all five patients in the family at 1 to 16 years of follow-up. Three patients have died of renal cancer, and two are in a second remission. The renal cancers from three family members consistently reveal loss of the entire derivative chromosome 8, which bears the chromosome 3p segment spanning band p14 to the telomere. In contrast, no genetic change was detected in the derivative chromosome 3 or in normal chromosomes 3 and 8.

Conclusions: This family illustrates the importance of clinical follow-up of patients with a hereditary cancer that can develop at multiple foci and recur over time. The inherited 3;8 translocation and loss of the translocated distal chromosome 3p in tumor specimens of family members may help localize the gene or genes involved in the pathogenesis of both familial and sporadic renal carcinoma.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Carcinoma, Renal Cell / genetics*
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 8*
  • DNA, Neoplasm / genetics
  • Female
  • Follow-Up Studies
  • Humans
  • Karyotyping
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local / genetics
  • Pedigree
  • Translocation, Genetic*


  • DNA, Neoplasm