Clinical/Commercial Genetic Testing in UM

Abstract

To better stratify the metastatic risk of uveal melanoma and ultimately to stratify this patient population appropriately for different metastatic screening protocols and for adjuvant treatment trials, investigators explored cytogenetic analysis of the primary tumor. The outcome of this important research is the advent of primarily two commercial tests. One is a chromosomal analysis available by Impact Genetics. The laboratory analyzes chromosome copy number using multiplex ligation-dependent probe amplification (MLPA) on chromosomes 1, 3, 6, and 8 to detect monosomy, disomy, or trisomy status. The second commercial test uses cytogenetic analysis of the tumor DNA termed gene expression profiling (GEP). GEP testing is now available commercially as the DecisionDx-UM test from Castle Biosciences. This chapter explains the science behind the tests, the significance of the reported test results, and a look at the future.