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

Abstract

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.