Sistema de Salut de Catalunya
Institut Català de la Salut
[Lamas-Francis D, de Esteban-Maciñeira E, Bande-Rodríguez M] Department of Ophthalmology, University Hospital of Santiago de Compostela, Santiago de Compostela, Spain. [Rodríguez-Fernández CA] Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. FarmaChusLab Group, Health Research Institute of Santiago de Compostela (FIDIS), Santiago de Compostela, Spain. [Silva-Rodríguez P] Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain. Translational Ophthalmology Group, Health Research of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. [Pardo M] Obesidomics Group, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain
Vall d'Hebron Barcelona Hospital Campus
2024-10-21T12:26:03Z
2024-10-21T12:26:03Z
2024-07
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.
Article
Published version
English
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
MDPI
Cancers;16(14)
https://doi.org/10.3390/cancers16142510
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3437]
