2026-04-17T04:17:25Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/120952025-10-24T10:41:15Zcom_2072_378070com_2072_378040col_2072_378092

2025-10-24T10:41:15Z urn:hdl:11351/12095 Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis Lamas Francis, David de Esteban Maciñeira, Elia Silva-Rodríguez, Paula Pardo, Maria Bande, Manuel F Rodriguez-Fernandez, Carmen Antia Anomalies cromosòmiques Úvea - Càncer - Aspectes genètics Úvea - Càncer - Prognosi Metàstasi PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Neoplasms::Neoplasms by Site::Eye Neoplasms::Uveal Neoplasms Other subheadings::Other subheadings::Other subheadings::/genetics ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome::Progression-Free Survival DISEASES::Neoplasms::Neoplastic Processes::Neoplasm Metastasis FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del ojo::neoplasias de la úvea Otros calificadores::Otros calificadores::Otros calificadores::/genética TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento::supervivencia libre de progresión ENFERMEDADES::neoplasias::procesos neoplásicos::metástasis neoplásica Driver mutations; Survival; Uveal melanoma Mutaciones conductoras; Supervivencia; Melanoma uveal Mutacions conductores; Supervivència; Melanoma uveal The prognosis of uveal melanoma is significantly influenced by the risk of metastasis, which varies according to clinical and genetic features. Driver mutations can predict the likelihood of disease progression and survival, although the data in the literature are inconsistent. This meta-analysis aimed to evaluate the prognostic significance of driver mutations, including GNAQ, GNA11, BAP1, and SF3B1, in the advancement of uveal melanoma. A comprehensive search of databases yielded relevant studies, and data from 13 studies (848 eyes) were synthesized to assess the impact of these mutations on metastasis-free survival. The BAP1 mutation and negative immunohistochemistry were associated with a higher risk of metastasis (logHR = 1.44, 95% CI 1.05–1.83). GNAQ, GNA11, and SF3B1 mutations did not show a significant increase in risk. In summary, BAP1 has proven to reliably predict the likelihood of disease progression in uveal melanoma, while further studies are needed to establish the significance of other driver mutations. 2025-10-24T10:41:15Z 2025-10-24T10:41:15Z 2024-10-21T12:26:03Z 2024-10-21T12:26:03Z 2024-07 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/12095 Cancers;16(14) https://doi.org/10.3390/cancers16142510 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess MDPI Scientia