Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma bymicrosatellite analysis in comparison to comparative genomic hybridization

In uveal melanoma, monosomy 3 is strongly associated with metastic disease and poor prognosis. Cytogenetic analysis and comparative genomic hybridizat ion (CGH) have been used to identify chromosomal aberrations in uveal melan oma. As these methods are costly and time consuming in routine diagnostic s ettings, we evaluated whether tumors with monosomy 3 can be reliably identi fied by microsatellite analysis (MSA). In addition, we also tested if aberr ations of chromosomes 6 and 8, which have also been associated with the cou rse of the disease. can be detected by MSA. We established a protocol for M SA of 23 markers, 3-4 on each arm of chromosomes 3, 6, and a. Twenty tumors were analyzed by CGH and MSA, and 10 tumors were analyzed by MSA only. For chromosome 3, the results of CGH and MSA were concordant, thus indicating that the dosage of this chromosome can reliably be determined by MSA. Howev er, MSA failed to detect copy number gains at 6p in some tumors. Moreover, despite quantitative evaluation of allele ratios, it was not possible to di scern 8p losses and gains reliably. We thus conclude that while MSA can be used to determine monosomy 3 in uveal melanoma, careful interpretation of r esults for chromosomes 6 and 8 is recommended. (C) 2000 Elsevier Science In c. All rights reserved.