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

• Published in: Kidney international Vol. 53; no. 2; pp. 273 - 275
• Main Authors: Koolen, Marianne I., van der Meyden, Ad P.M., Bodmer, Danielle, Eleveld, Marc, van der Looij, Erica, Brunner, Han, Smits, Arie, van den Berg, Eva, Smeets, Dominique, Geurts van Kessel, Ad
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.02.1998; Nature Publishing
• Subjects: Aged; Biological and medical sciences; Carcinoma, Renal Cell - genetics; chromosome translocation; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 3; Female; genetics; Humans; Karyotyping; Kidney Neoplasms - genetics; Kidneys; Male; Medical sciences; Middle Aged; Nephrology. Urinary tract diseases; Pedigree; renal carcinoma family; Translocation, Genetic; Tumors of the urinary system; chromosome translocation; genetics; renal carcinoma family; Chromosomal aberration; Kidney disease; Human; Urinary system disease; Carcinoma; Family study; Malignant tumor; Chromosome 3; Carcinogenesis; Genetic determinism; Kidney; Case study; Cytogenetics; Abnormal chromosome; Chromosome translocation
• ISSN: 0085-2538; 1523-1755
• DOI: 10.1046/j.1523-1755.1998.00762.x

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