Prognostic impacts of cytogenetic findings in clear cell renal cell carcinoma: Gain of 5q31-qter predicts a distinct clinical phenotype with favorable prognosis

To evaluate the prognostic significance of cytogenetic findings in clear ce ll renal cell carcinoma (RCC), cytogenetic results of 118 primary RCCs were evaluated in relation to classical indicators of prognosis and overall sur vival. Losses in 3p (98.3%) were most prevalent and included 32 (27.6%) mon osomies of chromosome 3 and 84 (72.4%) structural aberrations involving 3p, of which 36 were unbalanced translocations, der(3)t(3; 5)(p11-p22;q13-q31) , resulting in duplication of 5q sequences. Patients with gain of 5q31-qter resulting from either polysomies or structural rearrangements of 5q, the m ost frequent of which was der(3)t(3;5), had a significantly better outcome than those without this aberration (P = 0.001). There was no association be tween gain of 5q or der(3)t(3;5) and any of the well-known variables for pr ognosis, including low versus high clinical stage and grade of malignancy. Among additional chromosomal aberrations, loss of chromosome 9/9p was assoc iated with distant metastasis at diagnosis (P = 0.006). The data indicate t hat gain of 5q identifies a clinically favorable cytogenetic variant of cle ar cell RCC and demonstrate the impact of specific chromosome aberrations a s additional prognostic indicators in clear cell RCC.