{"id":{"repo_id":"catania","oai_identifier":"oai:www.iris.unict.it:20.500.11769/581857"},"canonical_url":"https://search.dev.ndltd.org/etd/catania/oai:www.iris.unict.it:20.500.11769/581857","repository":{"repo_id":"catania","name":"Università degli Studi di Catania","base_url":"https://www.iris.unict.it/oai/request"},"display":{"title":"microRNAs in Uveal Melanoma: in vivo findings and computational analysis","abstract":"Background: Uveal melanoma (UM) is the most prominent primary eye cancer in adults, featuring a high mortality rate and poor prognosis. The role of miRNAs as potential biomarkers in UM patients has drown increasing attention and recent computational analyses have shown the prognostic significance of a cluster of deregulated miRNAs in UM patients. Purpose: The aim of the study was to assess whether the evaluation of the expression levels of the up-regulated miRNA hsa-miR-199a-5p and of down-regulated miRNAs hsa-miR-508-3p and hsa-miR-514a-3p could be useful biomarker in uveal melanoma (UM) patients. Methods: Expression profile of miRNAs hsa-miR-199a-5p, hsa-miR-508-3p and hsa-miR-514a-3p was performed in serum of 30 patients newly diagnosed with UM and compared to 10 healthy controls. Of the 30 UM patients, 11 underwent enucleation and Formalin-Fixed Paraffin-Embedded (FFPE) UM samples were analyzed to assess the expression levels of the three miRNAs under investigation. Droplet digital PCR (ddPCR) was used for both liquid biopsy and tissue samples. A novel computational analysis for the three selected miRNAs was performed in order to corroborate the experimental results. Results: Significantly higher expression levels of miRNAs hsa-miR-199a-5p were found in serum samples of UM patients compared with healthy controls. Receiver Operating Characteristics (ROC) analysis revealed that a diagnostic test based on the evaluation of hsa-miR-199a-5p circulating levels would have a moderate accuracy (AUC=0.7433), and limited specificity and sensitivity (63.33% and 70%, respectively). No circulating levels of both miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were detected. ddPCR analyses confirmed significantly upregulated expression of miRNA hsa-miR-199a-5p in UM tissue samples, whereas miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were found significantly downregulated. The bioinformatics results confirmed the prognostic value of the three miRNAs under investigation and showed a plethora of targeted genes involved in different physio-pathological processes. Conclusions: The present study demonstrated the diagnostic value of hsa-miR-199a-5p in liquid biopsy samples from UM patients. While hsa-miR-508-3p and hsa-miR-514a-3p have no role as circulating biomarkers, they were found significantly down-regulated in FFPE UM samples, suggesting their potential prognostic role in those patients treated with enucleation.","abstract_html":"Background: Uveal melanoma (UM) is the most prominent primary eye cancer in adults, featuring a high mortality rate and poor prognosis. The role of miRNAs as potential biomarkers in UM patients has drown increasing attention and recent computational analyses have shown the prognostic significance of a cluster of deregulated miRNAs in UM patients. Purpose: The aim of the study was to assess whether the evaluation of the expression levels of the up-regulated miRNA hsa-miR-199a-5p and of down-regulated miRNAs hsa-miR-508-3p and hsa-miR-514a-3p could be useful biomarker in uveal melanoma (UM) patients. Methods: Expression profile of miRNAs hsa-miR-199a-5p, hsa-miR-508-3p and hsa-miR-514a-3p was performed in serum of 30 patients newly diagnosed with UM and compared to 10 healthy controls. Of the 30 UM patients, 11 underwent enucleation and Formalin-Fixed Paraffin-Embedded (FFPE) UM samples were analyzed to assess the expression levels of the three miRNAs under investigation. Droplet digital PCR (ddPCR) was used for both liquid biopsy and tissue samples. A novel computational analysis for the three selected miRNAs was performed in order to corroborate the experimental results. Results: Significantly higher expression levels of miRNAs hsa-miR-199a-5p were found in serum samples of UM patients compared with healthy controls. Receiver Operating Characteristics (ROC) analysis revealed that a diagnostic test based on the evaluation of hsa-miR-199a-5p circulating levels would have a moderate accuracy (AUC=0.7433), and limited specificity and sensitivity (63.33% and 70%, respectively). No circulating levels of both miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were detected. ddPCR analyses confirmed significantly upregulated expression of miRNA hsa-miR-199a-5p in UM tissue samples, whereas miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were found significantly downregulated. The bioinformatics results confirmed the prognostic value of the three miRNAs under investigation and showed a plethora of targeted genes involved in different physio-pathological processes. Conclusions: The present study demonstrated the diagnostic value of hsa-miR-199a-5p in liquid biopsy samples from UM patients. While hsa-miR-508-3p and hsa-miR-514a-3p have no role as circulating biomarkers, they were found significantly down-regulated in FFPE UM samples, suggesting their potential prognostic role in those patients treated with enucleation.","abstract_has_math":false,"creators":["FALLICO, MATTEO ROBERTO"],"institution":"Università degli studi di Catania","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["STEFANI, Stefania"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2020,"date_issued":"2020-12-18","date_published":"2020-12-18","updated_at":"2026-07-24T01:34:58Z","subjects":["uveal melanoma, microRNAs, epigenetic alterations, bioinformatics"],"languages":["ita"],"rights":["info:eu-repo/semantics/openAccess","license:PUBBLICO - Pubblico con Copyright","license uri:iris.PUB02"],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://hdl.handle.net/20.500.11769/581857","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Fallico, MATTEO ROBERTO","STEFANI, Stefania"]},{"key":"dc:creator","label":"Author","values":["FALLICO, MATTEO ROBERTO"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2020-12-18"]},{"key":"dc:publisher","label":"Institution","values":["Università degli studi di Catania","place:Catania"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["uveal melanoma, microRNAs, epigenetic alterations, bioinformatics"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["ita"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess","license:PUBBLICO - Pubblico con Copyright","license uri:iris.PUB02"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://hdl.handle.net/20.500.11769/581857"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Background: Uveal melanoma (UM) is the most prominent primary eye cancer in adults, featuring a high mortality rate and poor prognosis. The role of miRNAs as potential biomarkers in UM patients has drown increasing attention and recent computational analyses have shown the prognostic significance of a cluster of deregulated miRNAs in UM patients. Purpose: The aim of the study was to assess whether the evaluation of the expression levels of the up-regulated miRNA hsa-miR-199a-5p and of down-regulated miRNAs hsa-miR-508-3p and hsa-miR-514a-3p could be useful biomarker in uveal melanoma (UM) patients. Methods: Expression profile of miRNAs hsa-miR-199a-5p, hsa-miR-508-3p and hsa-miR-514a-3p was performed in serum of 30 patients newly diagnosed with UM and compared to 10 healthy controls. Of the 30 UM patients, 11 underwent enucleation and Formalin-Fixed Paraffin-Embedded (FFPE) UM samples were analyzed to assess the expression levels of the three miRNAs under investigation. Droplet digital PCR (ddPCR) was used for both liquid biopsy and tissue samples. A novel computational analysis for the three selected miRNAs was performed in order to corroborate the experimental results. Results: Significantly higher expression levels of miRNAs hsa-miR-199a-5p were found in serum samples of UM patients compared with healthy controls. Receiver Operating Characteristics (ROC) analysis revealed that a diagnostic test based on the evaluation of hsa-miR-199a-5p circulating levels would have a moderate accuracy (AUC=0.7433), and limited specificity and sensitivity (63.33% and 70%, respectively). No circulating levels of both miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were detected. ddPCR analyses confirmed significantly upregulated expression of miRNA hsa-miR-199a-5p in UM tissue samples, whereas miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were found significantly downregulated. The bioinformatics results confirmed the prognostic value of the three miRNAs under investigation and showed a plethora of targeted genes involved in different physio-pathological processes. Conclusions: The present study demonstrated the diagnostic value of hsa-miR-199a-5p in liquid biopsy samples from UM patients. While hsa-miR-508-3p and hsa-miR-514a-3p have no role as circulating biomarkers, they were found significantly down-regulated in FFPE UM samples, suggesting their potential prognostic role in those patients treated with enucleation."]},{"key":"dc:title","label":"Title","values":["microRNAs in Uveal Melanoma: in vivo findings and computational analysis"]}]}],"canonical_facts":{"dc:contributor":["Fallico, MATTEO ROBERTO","STEFANI, Stefania"],"dc:creator":["FALLICO, MATTEO ROBERTO"],"dc:date":["2020-12-18"],"dc:description":["Background: Uveal melanoma (UM) is the most prominent primary eye cancer in adults, featuring a high mortality rate and poor prognosis. The role of miRNAs as potential biomarkers in UM patients has drown increasing attention and recent computational analyses have shown the prognostic significance of a cluster of deregulated miRNAs in UM patients. Purpose: The aim of the study was to assess whether the evaluation of the expression levels of the up-regulated miRNA hsa-miR-199a-5p and of down-regulated miRNAs hsa-miR-508-3p and hsa-miR-514a-3p could be useful biomarker in uveal melanoma (UM) patients. Methods: Expression profile of miRNAs hsa-miR-199a-5p, hsa-miR-508-3p and hsa-miR-514a-3p was performed in serum of 30 patients newly diagnosed with UM and compared to 10 healthy controls. Of the 30 UM patients, 11 underwent enucleation and Formalin-Fixed Paraffin-Embedded (FFPE) UM samples were analyzed to assess the expression levels of the three miRNAs under investigation. Droplet digital PCR (ddPCR) was used for both liquid biopsy and tissue samples. A novel computational analysis for the three selected miRNAs was performed in order to corroborate the experimental results. Results: Significantly higher expression levels of miRNAs hsa-miR-199a-5p were found in serum samples of UM patients compared with healthy controls. Receiver Operating Characteristics (ROC) analysis revealed that a diagnostic test based on the evaluation of hsa-miR-199a-5p circulating levels would have a moderate accuracy (AUC=0.7433), and limited specificity and sensitivity (63.33% and 70%, respectively). No circulating levels of both miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were detected. ddPCR analyses confirmed significantly upregulated expression of miRNA hsa-miR-199a-5p in UM tissue samples, whereas miRNAs hsa-miR-508-3p and hsa-miR-514a-3p were found significantly downregulated. The bioinformatics results confirmed the prognostic value of the three miRNAs under investigation and showed a plethora of targeted genes involved in different physio-pathological processes. Conclusions: The present study demonstrated the diagnostic value of hsa-miR-199a-5p in liquid biopsy samples from UM patients. While hsa-miR-508-3p and hsa-miR-514a-3p have no role as circulating biomarkers, they were found significantly down-regulated in FFPE UM samples, suggesting their potential prognostic role in those patients treated with enucleation."],"dc:identifier":["https://hdl.handle.net/20.500.11769/581857"],"dc:language":["ita"],"dc:publisher":["Università degli studi di Catania","place:Catania"],"dc:rights":["info:eu-repo/semantics/openAccess","license:PUBBLICO - Pubblico con Copyright","license uri:iris.PUB02"],"dc:subject":["uveal melanoma, microRNAs, epigenetic alterations, bioinformatics"],"dc:title":["microRNAs in Uveal Melanoma: in vivo findings and computational analysis"],"dc:type":["info:eu-repo/semantics/doctoralThesis"]},"updated_at":"2026-07-24T01:34:58Z"}