Molecular Karyotyping for Detection of Prognostic Markers in Fine Needle Aspiration Biopsy Samples of Uveal Melanoma

Uveal melanoma is the most common cancer of the eye in which approximately 50 % of cases develop metastases that are fatal within 2–15 years. Thus it is critical to identify prognostic markers to select high-risk patients into an adjuvant treatment. Chromosomal copy number alterations have been associated with poor prognosis. Historically the gold standard for identifying chromosomal aberrations had been fluorescent in situ hybridization. But in recent years other techniques have been developed that allow very rapid molecular analysis for estimation of chromosomal copy number with finer resolution. These include microsatellite analysis, multiple ligation-dependent probe amplification, and, most recently, genome-wide single-nucleotide polymorphism array analysis. These various procedures have identified loss of all or part of chromosome 3 (monosomy), losses of 1p, 6q, or 8p, or gains of 6p or 8q which, together with tumor location, morphology, and size, can be used to accurately predict the risk of metastasis.