Results
Following the analysis, 130 unique genetic mutations were observed in
all the UM patients. Out of those 130 mutations, 7 were recurrent in the
primary samples, and none were recurrent in the metastases samples. The
7 most recurrent mutations were ALG1L2, DMD, IL1RAPL2, KIA0825,
LOC440040, NXF2, and PHYHD1. ALG1L2, being the most frequent genetic
mutation, was observed in 4 patients out of the 23 primary samples (32
samples total). This indicates a 17.39% recurrence, which is quite high
considering that there are hundreds of thousands of genes within the
human genome. It was also observed that most of the genetic mutations
were present on chromosomes 3, 5, 9, 11, and 23 (X chromosome), which
reconfirms previous findings of chromosomes 1 and 3 being involved, and
identifies chromosomes 5, 9, and 23 as new factors. The pareto analyses
revealed that the X chromosome and chromosome 3 experienced the most
genetic mutations, totaling at around 75 mutations combined (primary
samples) [Figure 2].