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Institute of Pathology [B. G., M. H., L. F.] and Department of Urology [R-H. R.], Georg August University Hospital Göttingen, 37075 Göttingen, Germany; Division of Molecular Genome Analysis, German Cancer Research Center, 69120 Heidelberg, Germany [W. H., A. P.], Division of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, 14195 Berlin, Germany [A. v. H.]; Virtual Campus Rhineland-Palatinate, 55033 Mainz, Germany [T. E.]; and Department of Urology, University Hospital Aachen, 52057 Aachen, Germany [G. J.]
To evaluate the prognostic significance of cytogenetic findings in clear cell renal cell carcinoma (RCC), cytogenetic results of 118 primary RCCs were evaluated in relation to classical indicators of prognosis and overall survival. Losses in 3p (98.3%) were most prevalent and included 32 (27.6%) monosomies 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 most 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 between gain of 5q or der(3)t(3;5) and any of the well-known variables for prognosis, including low versus high clinical stage and grade of malignancy. Among additional chromosomal aberrations, loss of chromosome 9/9p was associated with distant metastasis at diagnosis (P = 0.006). The data indicate that gain of 5q identifies a clinically favorable cytogenetic variant of clear cell RCC and demonstrate the impact of specific chromosome aberrations as additional prognostic indicators in clear cell RCC.
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