Tissue-specific expression of a constitutional 3;6 translocation: development of multiple bilateral renal-cell carcinomas.
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.
Kovacs
G
G
Laboratory of Cytogenetics, Institute of Pathology, Hanover Medical School, FRG.
Brusa
P
P
De Riese
W
W
D001773:Blood Cells / Q000648:ultrastructure; D002292:Carcinoma, Renal Cell / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000648:ultrastructure; D007680:Kidney Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014178:Translocation, Genetic