Cytogenetic characterization of a familial papillary renal cell carcinoma

We describe the first case of a familial renal cell carcinoma cytogenetically Cytogenetic and molecular studies were performed on primary renal cell carcinomas and normal kidney tissue from two members of the same family. Both patients showed a normal constitutional karyotype. The two tumors analyzed from the first patient showed the numerical chromosome alterations characteristic of papillary renal cell carcinomas. From the four tumors analyzed in the second patient, three of them presented the cytogenetic pattern of papillary renal cell tumors, and the fourth showed only structural chromosome abnormalities with the presence of a del(7)t(7;7) or dup(7) in all metaphases analyzed. Chromosome 3 was cytogenetically unaffected in all tumors from both patients, and restriction fragment length polymorphism analysis performed with probe pEFD145 (3p21.1-p23) did not detect any loss of heterozygosity.