Uveal Melanoma
Conditions
Keywords
uveal melanoma, GNA11 mutation, GNAQ mutation, micro RNA
Brief summary
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.
Detailed description
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.
Interventions
GENETICblood sample examination
droplet digital PCR in blood sample for research of mutations of GNA11 and GNAQ genes and the following microRNAs: miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p.
Sponsors
University of Catania
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| circulating GNA11 mutation detection through digital droplet PCR | at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year | the incidence of GNA11 mutations in uveal melanoma patients and in controls |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| micro RNA levels in serum | at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year | the expression levels of circulating miRNAs (miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p) in uveal melanoma patients and in controls |
Countries
Italy, Poland
Contacts
Primary ContactAntonio Longo, MD PhD
Backup ContactMatteo R Fallico, MD PhD
Outcome results
None listed