Abstract
Purpose: To analyze MiRs expression in serum of UM patients, respect to healthy donors, and to compare this data with MiRs expressed in formalin-fixed, paraffin-embedded UM samples.Methods: Expression profile of 754 miRNAs was performed in serum of patients with uveal melanoma who underwent primary enucleation. The level of miRNAs increased in serum was individually analyzed on FFPE UM samples and compared to choroidal melanocytes from unaffected eyes.Results: Fourteen patients with uveal melanoma were included in the study. We found 8 serum miRNAs differentially expressed compared to normal controls: 2 upregulated miRNAs (miRNA-146a, miR-523); 6 downregulated miRNAs (miR-19a, miR-30d, miR-127, miR-451, miR-518f, miR-1274B). When data on upregulated miRNAs were singularly validated only a significant overexpression of miRNA-146a was found. A statistically significant upregulation of miRNA-146a was also found on FFPE UM samples, compared to choroidal melanocytes from unaffected eyes.Conclusions: miRNA-146a is increased in serum of patients with UM and in FFPE tumor samples. Further studies will show if it could be considered a potential marker of UM in the blood.
Highlights
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults with an incidence in the United States of 5.1 cases per million (Singh et al, 2011)
The serum samples were collected before the enucleation procedure, which was performed at the Eye Clinic of the University of Catania
This study included a total of 14 patients, 10 women and 4 men, with uveal melanoma
Summary
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults with an incidence in the United States of 5.1 cases per million (Singh et al, 2011). It has been estimated that even with appropriate treatment and close follow-up, 40–50% of patients with UM die from metastatic disease; the liver is involved in up to 90% of individuals and the median survival is 4–5 months (Kujala et al, 2003). The underlying molecular biology of UM is complex and involves interactions between networks of genes, signaling pathways, and gene regulatory mechanisms, and a better understanding of these underlying molecular mechanisms is essential for translational research. Most UM cases are correctly diagnosed through ophthalmoscopy, ultrasonography, fundus fluorescein angiography, miRNA-146a in Uveal Melanoma indocyanine green angiography, and magnetic resonance imaging (Russo et al, 2015). Clinical presentation, size of lesion, opacity of refractive media, intraocular hemorrhage, and other factors may cause false negative or positive diagnosis
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