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.
Study Type
OBSERVATIONAL
Enrollment
102
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.
Eye Clinic, Azienda Policlinico San Marco
Catania, Italy
RECRUITINGEye Clinic University of Turin
Turin, Italy
RECRUITINGDepartment of General and Pediatric Ophthalmology, Medical University of Lublin
Lublin, Poland
RECRUITINGcirculating GNA11 mutation detection through digital droplet PCR
the incidence of GNA11 mutations in uveal melanoma patients and in controls
Time frame: at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
micro RNA levels in serum
the expression levels of circulating miRNAs (miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p) in uveal melanoma patients and in controls
Time frame: at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.