Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS.

Manuel Pérez-Pérez; Carmen García de Sola-Llamas; Alessandro Agostino; Michael Ruvolo; Ángel Vilches-Arenas; M Isabel Relimpio-López; Laura Macías-García; Manuel De Miguel-Rodríguez; Sebastian Umbria-Jimenez; Antonio García-Escudero; MiguelA Idoate; Juan J Ríos-Martín

doi:10.1016/j.jcjo.2026.01.014

February 2, 2026

Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS.

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Key Points

This study aims to identify mutations in uveal melanoma that correlate with prognosis to improve patient outcomes.
Analyzed mutations in genes BAP1, CHEK2, DICER1, and SF3B1 using targeted NGS.
Evaluated the association of these mutations with patient prognosis.
Classified histologic subgroups based on mutation presence.
BAP1, CHEK2, and DICER1 mutations are linked to worse outcomes in uveal melanoma.
SF3B1 mutations indicate a distinct histologic subgroup.
Routine mutational profiling can enhance risk stratification and patient monitoring.

Implication

Analytical study identifies mutations associated with poor prognosis in uveal melanoma, suggesting improved patient management.

Abstract

Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in UM, while SF3B1 defines a distinct histologic subgroup. Routine mutational profiling by targeted NGS may aid in risk stratification and follow-up of UM patients.

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Cite This Study

Pérez-Pérez et al. (2026) studied this question.

synapsesocial.com/papers/698827c90fc35cd7a8846b03 https://doi.org/10.1016/j.jcjo.2026.01.014

View Full Paper

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Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS.

Key Points

Implication

Abstract

Discussion

Cite This Study

Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS.

Key Points

Implication

Abstract

Discussion

Cite This Study

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