Genomic changes, most importantly loss of a single copy of chromosome 3, are associated with an increased risk of metastasis.2â5Gene expression proï¬ling of uveal melanomas has revealed 2 distinct classes of tumors that accurately predict prognosis. Class 1 tumors are unlikely to metastasize, while class 2 tumors are more likely to metastasize and cause death. The genetic signature of class 1 and class 2 tumors can be assessed from a traditional biopsy or from a ï¬ne needle aspiration biopsy (FNAB). This gene expression proï¬ling has been shown to have superior predictive accuracy when compared to the analysis using ï¬uorescence in situ hybridization or array comparative genomic hybridization looking only at monosomy.
The genetic expression profiles of those discriminating genes were verified in uveal melanoma tumors using quantitative polymerase chain reaction (qPCR) methods, and predictive modeling was performed to identify an optimum set of genes able to accurately predict metastatic risk and report class assignments.
DecisionDX-UM Summary: GEP Test enables accurate staging of metastatic risk. (2013) My Uveal Melanoma. Retrieved October 15, 2013 from http://myuvealmelanoma.com/health-care-professionals/decisiondx-um-summary/
Griewank K. G,Westekemper H, Murali R. Mach M, Schilling B, Wiesner T, Schimming T, … Schandendorf D. (2013). Conjunctival Melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas. Clinical Cancer Research, 19(12) 3143-52 doi: 10.1158/1078-0432.CCR-13-0163.
Michael C. Chappell, Devron H. Char, Tia B. Cole, J. William Harbour, Kavita Mishra, Vivian K. Weinberg, Theodore L. Phillips. (2012). Uveal Melanoma: Molecular Pattern, Clinical Features, and Radiation Response. American Journal of Ophthalmology, 0002-9394 doi: 10.1016/j.ajo.2012.02.022.Description