Whole Exome Sequencing and Methylation Profiling of Uveal Melanoma

Uveal melanoma (UM) is the most common primary cancer of the eye and frequently leads to metastatic death. Metastatic risk can be stratified into low, intermediate and high based on the presence of mutually exclusive mutations in EIF1AX, SF3B1 and BAP1, respectively. The purpose of this study was to comprehensively profile the genetic aberrations in a set of primary uveal melanomas using whole exome sequencing, as well as DNA methylation profiling of selected samples, to improve understanding of its pathogenesis.]]>
Tumor and blood were obtained from patients in the practice of J. William Harbour who were diagnosed with UM arising from the choroid and/or ciliary body and treated by primary enucleation without previous radiotherapy. All patients signed informed consent. The study was approved by the Institutional Review Board at the University of Miami.]]>
Tumor and blood were obtained from patients in the practice of J. William Harbour who were diagnosed with UM arising from the choroid and/or ciliary body and treated by primary enucleation without previous radiotherapy.]]>