title: Instability of microsatellites is an infrequent event in uveal melanoma.
abstract: Microsatellite instability (MSI) is a distinct tumour phenotype that is associated with alterations of DNA mismatch repair and is being increasingly reported in a number of hereditary and sporadic tumours. Numerous reports have suggested that melanocytic neoplasms, including cutaneous melanomas, frequently demonstrate low frequency MSI, whilst a small number of tumours exhibit high frequency MSI. Furthermore, loss of expression of DNA mismatch repair proteins has been associated with progression from benign to malignant disease in melanocytic neoplasms, but the presence or absence of mismatch repair defects in uveal melanomas has yet to be determined. This study was designed to establish whether MSI is a feature of these ocular melanomas. To investigate the prevalence of MSI in uveal melanomas, 52 tumours were analysed by polymerase chain reaction amplification of a panel of microsatellite markers selected for their ability to detect tumours exhibiting defects in DNA mismatch repair mechanisms. MSI was rarely detected in the 52 uveal melanomas analysed. All tumours demonstrated stable microsatellites at five of the six microsatellite markers tested (BAT26, BAT40, APC, D2S123 and Mfd15CA). Only one tumour showed the presence of a single unstable allele at a tetranucleotide marker (MYCL1). These data suggest that high frequency MSI does not occur in these tumours, and that low frequency MSI, in contrast to cutaneous melanoma, is a rare event in malignant melanomas of the uveal tract.
mesh_terms: D020137:Base Pair Mismatch; D045744:Cell Line, Tumor; D004260:DNA Repair; D043243:DNA Sequence, Unstable; D005819:Genetic Markers; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014604:Uveal Neoplasms / Q000235:genetics*
chemical_list: D005819:Genetic Markers