Tissue-specific expression of a constitutional 3;6 translocation: development of multiple bilateral renal-cell carcinomas

Int J Cancer. 1989 Mar 15;43(3):422-7. doi: 10.1002/ijc.2910430313.


We describe a German family carrying a constitutional translocation (3;6) (p13;q25.1) in 3 consecutive generations. The only member of the family over 50 years of age and carrying the translocation developed multiple bilateral renal-cell carcinomas. We performed chromosome analysis of 4 out of 5 primary tumours, which were characterized by different clonal karyotypes. The constitutionally translocated 3p13-pter segment was lost with or without the receptor chromosome 6 in each tumour. Additional karyotypic changes were trisomy 5, 7 and 18, monosomy 14 and 21, and loss of the Y chromosome, all karyotype changes occurring frequently in sporadic non-papillary RCCs. This case is discussed with regard to the possible role of suppressor gene inactivation by constitutional translocation in the development of familial renal cancers.

Publication types

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

MeSH terms

  • Blood Cells / ultrastructure
  • Carcinoma, Renal Cell / blood
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 6*
  • Humans
  • Karyotyping
  • Kidney / ultrastructure
  • Kidney Neoplasms / blood
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary / blood
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Pedigree
  • Translocation, Genetic*