COMPARATIVE GENOMIC HYBRIDIZATION IN THE DETECTION OF DNA COPY NUMBERABNORMALITIES IN UVEAL MELANOMA

Genomic instability appears to play an important role in the developme nt, growth, invasiveness, and eventual metastasis of the neoplastic ce ll. We have used a powerful new technique, comparative genomic hybridi zation, to evaluate genetic alterations in 10 fresh frozen uveal melan omas. Comparative genomic hybridization utilizes dual fluorescence in situ hybridization to characterize chromosome deletions and duplicatio ns, allowing for simultaneous evaluation of the entire human genome. S everal consistent chromosomal abnormalities were detected. This study confirmed previous findings obtained using standard cytogenetic techni ques but demonstrated an increased incidence in abnormalities of chrom osomes 3 and 8; there was loss of chromosome 3 and duplication of 8q. In addition, we identified, although less frequently, other recurrent abnormal regions including alterations on chromosomes 6p, 7q, 9p, and 13q.