CORRELATION OF CYTOGENETIC ABNORMALITIES WITH THE OUTCOME OF PATIENTSWITH UVEAL MELANOMA

BACKGROUND. Cytogenetic investigations of choroid and ciliary body mel anomas have revealed that the majority of cases are characterized by r ecurrent clonal abnormalities involving chromosomes 3, 6, and 8. The a uthors sought to determine whether these abnormalities were associated with outcome. METHODS. Fifty-four patients who underwent enucleation for untreated uveal melanoma between 1988 and 1996 were subjected to c omplete cytogenetic analysis. The most recent follow-up data from the time of enucleation was obtained. Patient outcomes were divided into t wo groups: 1) alive with metastases or dead of disease, and 2) alive w ithout known metastases or dead of other causes. The relative risk (RR ) and 95% confidence interval (CI) of a poor outcome were calculated f or each chromosomal abnormality and clinical characteristic. RESULTS, Patients were followed for a median of 38 months. No patients were los t to follow-up. Abnormalities of chromosomes 3 and 8 were associated w ith a poor prognosis, but only when these two chromosomal abnormalitie s were present together (RR = 4.1, 95% CI = 1.7-9.9). The presence of a chromosome 6 abnormality was predictive of a good outcome (RR = 0.2, 95% CI = 0.1-0.8), even in the presence of chromosome 3 and 8 abnorma lities. The only clinical factor associated with a poor outcome was th e presence of extrascleral extension. CONCLUSIONS. In this group of pa tients with large posterior uveal melanomas, the concurrent presence o f cytogenetic abnormalities of chromosomes 3 and 8 was associated with a poor outcome. An abnormality of chromosome 6 appeared to have a pro tective effect. These data suggest that cytogenetic analysis may provi de prognostic information on patients with uveal melanoma and that fur ther investigation of the contributions of these chromosomal aberratio ns to disease progression is warranted. (C) 1998 American Cancer Socie ty.