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New research · Ophthalmology
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 17h
ObservationalCanadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2026

Mutations with prognostic value in uveal melanoma: analytical study of variants detected by targeted next-generation sequencing.

Manuel Pérez-Pérez, Carmen García de Sola-Llamas, Alessandro Agostino … Juan J Ríos-Martín
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OphthalmologyObservational

Genetic and clinical model predicts metastatic risk accurately in uveal melanoma

Mutations with prognostic value in uveal melanoma: analytical study of variants detected by targeted next-generation sequencing.

Manuel Pérez-Pérez … Juan J Ríos-Martín
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2026
Purpose

To identify genetic variants with prognostic value in uveal melanoma (uveal melanoma) using targeted next-generation sequencing (next-generation sequencing) and evaluate their association with metastasis and histologic subtype.

Methods

A retrospective observational study.

n = 69 patients
0.801
Results
0.801
correctly ranks metastasis risk in most patient pairs compared
n = 69 patients
More results

A total of 231 pathogenic variants were identified across 28 genes.

In multivariable Cox analysis, larger tumour size (HR = 3.07), and higher mitotic index (HR = 1.31) were significantly associated with increased metastatic risk, along with mutations in BAP1, CHEK2, and DICER1.

More results

Logistic regression showed that BAP1 and LRP1B mutations were associated with epithelioid/mixed histology, while SF3B1 mutation was associated with spindle cell morphology.

“
Conclusion · 1 of 2

Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in uveal melanoma, while SF3B1 defines a distinct histologic subgroup.

Conclusion · 2 of 2

Routine mutational profiling by targeted next-generation sequencing may aid in risk stratification and follow-up of uveal melanoma patients.

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