Gene mutations, chromosome aberrations and prognosis of uveal melanoma

Abstract

Incidence of Uveal melanoma (UM), is only secondary to cutaneous melanoma and is common primary intraocular malignant tumor of in adults.Recent studies suggest that its occurrence is related with gene mutation, chromosome aberrations and molecular pathway abnormalities.The mutations include GNAQ gene, GNA11 gene, microRNA (miRNA) (miR-34a, miR-182, miR-137). Mutations of GNAQ gene and GNA11 gene activate relevant pathways, such as MEK/ATK pathway, to promote UM metastasis, which makes the poor prognosis.Different miRNAs target the correspending genes and affect the prognosis.And the mutations of telomerase reverse transcriptase, all of them adjust the specific molecular pathways to affect tumor occurrence, development, metastasis and prognosis.Molecular genetic studies confirm that most patients with UM have chromosome 1, 3, 6, 8, 9 alterations, making the chromosome gain or less, leading to more susceptible invasion and metastasis and influencing prognosis.This paper reviewed the gene mutation and chromosome aberrations in order to provide new targets for the treatment of UM. Key words: Uveal melanoma; Gene mutation; Chromosome aberrations; GNAQ gene; GNA11 gene