The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma

The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma

The aim of the study is to identify genetic and epigenetic biomarkers in uveal melanoma, and to evaluate their diagnostic and prognostic role.

In particular, the specific objectives are:

1. to identify the circulating somatic mutations associated with uveal melanoma;
2. to identify the de-regulated miRNAs associated with uveal melanoma;
3. to evaluate the diagnostic and prognostic role of the identified genetic and epigenetic markers;
4. to identify possible therapeutic targets.

This is a prospective, multicentric, case-control study, aimed at studying the gene and epigenetic mechanisms involved in uveal melanoma.

Patients with uveal melanoma, will be enrolled. For each subject included in the study, in a blood sample will be searched the mutations of the GNA11 and GNAQ genes and the expression of the following microRNAs: miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p; the digital PCR droplet system will be used.

The study will not change the diagnostic-therapeutic process adopted in the clinical practice and will have no influence on the clinical management of enrolled patients.

A group of age sex matched controls will be recruited among patients scheduled for cataract surgery.

The sample size was calculated to detect, with a power of 80% and a confidence interval of 95%, a difference of 13.5% between the incidence of mutation of the GNA11 gene in patients with melanoma and healthy controls. (13.5% vs 0%). Overall, at least 51 patients with uveal melanoma and 51 controls will be recruited, for a total of at least 102 subjects.

Inclusion Criteria:

• subjects diagnosed with uveal melanoma
• both sexes
• age ≥ 18 years

Exclusion Criteria:

• a) autoimmune diseases
• b) tumors
• c) kidney diseases
• d) atherosclerosis
• e) subjects undergoing anti-inflammatory therapies.