Evidence map›Paper›PMID 39858540›Full record

ArticleBiomolecules2025

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Michele Massimino, Elena Tirrò, Stefania Stella, Cristina Tomarchio, Sebastiano Di Bella, Silvia Rita Vitale, Chiara Conti, Marialuisa Puglisi, Rosa Maria Di Crescenzo, Silvia Varricchio and 11 more

Abstract read
In one paragraph

Article in Biomolecules, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

21 authors.

Michele MassiminoDepartment of General Surgery and Medical-Surgical Specialties, University of Catania, 95123 Catania, Italy.
Elena TirròCenter of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.ORCID 0000-0001-8012-5134
Stefania StellaCenter of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.
Cristina TomarchioCenter of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.ORCID 0000-0002-1044-1008
Sebastiano Di BellaDepartment of Precision Medicine in Medical, Surgical and Critical Care (Me.Pre.C.C.), University of Palermo, 90127 Palermo, Italy.ORCID 0000-0001-7161-303X
Silvia Rita VitaleCenter of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.ORCID 0000-0002-7948-3580
Chiara ContiDepartment of Human Pathology "G. Barresi", University of Messina, 98125 Messina, Italy.ORCID 0009-0007-7219-2477
Marialuisa PuglisiDepartment of Human Pathology "G. Barresi", University of Messina, 98125 Messina, Italy.
Rosa Maria Di CrescenzoPathology Unit, Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Silvia VarricchioPathology Unit, Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Francesco MerollaDepartment of Medicine and Health Sciences "V. Tiberio", University of Molise, 86100 Campobasso, Italy.ORCID 0000-0003-0711-6738
Giuseppe BroggiDepartment of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95123 Catania, Italy.ORCID 0000-0003-2576-6523
Federica MartoranaDepartment of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.ORCID 0000-0001-5062-2914
Alice TurdoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90127 Palermo, Italy.ORCID 0000-0002-6152-4903
Miriam GaggianesiDepartment of Precision Medicine in Medical, Surgical and Critical Care (Me.Pre.C.C.), University of Palermo, 90127 Palermo, Italy.ORCID 0000-0002-7810-856X
Livia ManzellaCenter of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.
Andrea RussoDepartment of General Surgery and Medical-Surgical Specialties, University of Catania, 95123 Catania, Italy.
Giorgio StassiDepartment of Precision Medicine in Medical, Surgical and Critical Care (Me.Pre.C.C.), University of Palermo, 90127 Palermo, Italy.ORCID 0000-0002-1016-9059
Rosario CaltabianoDepartment of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95123 Catania, Italy.ORCID 0000-0001-8591-8010
Stefania StaibanoPathology Unit, Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Paolo VigneriDepartment of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.

Funding

This work was supported by the European Union's NextGenerationEU initiative under the Italian Ministry of University and Research as part of the PNRR - M4C2-I1.3 Project PE00000019 "HEAL ITALIA" awarded to Michele Massimino, Federica Martorana, Paolo Vign PNRR - M4C2-I1.3 Project PE00000019 "HEAL ITALIA and PNRR-MAD-2022-12376183
6 · The paper itself

Abstract

backgroundDespite advances in uveal melanoma (UM) diagnosis and treatment, about 50% of patients develop distant metastases, thereby displaying poor overall survival. Molecular profiling has identified several genetic alterations that can stratify patients with UM into different risk categories. However, these genetic alterations are currently dispersed over multiple studies and several methodologies, emphasizing the need for a defined workflow that will allow standardized and reproducible molecular analyses.

methodsFollowing the findings published by "The Cancer Genome Atlas-UM" (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (

resultsEmploying commercial gene panels, reference mutated DNAs and Sanger sequencing, we performed a comparative analysis and found that our methodological approach successfully predicted survival with great specificity and sensitivity compared to the TCGA-UM cohort that was used as a validation group.

conclusionsOur results demonstrate that a reproducible NGS-based workflow translates into a reliable tool for the clinical stratification of patients with UM.

Indexed as

High-Throughput Nucleotide SequencingMelanomaUveal NeoplasmsBiomarkers, TumorFemaleHumansMaleMutationPrognosisUveal MelanomaWorkflowBiomarkers, Tumormolecular profilingNGSTCGAuveal melanoma

Identifiers

PMID39858540
PMCPMC11763870

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.