Lucia Iavarone, Renato Franco, Federica Zito Marino, Giuseppe D'Abbronzo, Giuseppe Argenziano, Camila Scharf, Grazia Nucci, Andrea Ronchi, Gerardo Cazzato
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Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.
Ocular melanoma is a rare but clinically significant malignancy, primarily comprising uveal and conjunctival subtypes. Although sharing some histopathological features with cutaneous melanoma, these tumours are characterized by distinct molecular and biological profiles with direct implications for prognosis and treatment. Uveal melanoma is predominantly driven by mutations in GNAQ and GNA11, along with alterations in BAP1, SF3B1, and EIF1AX, which are key prognostic determinants. Conversely, conjunctival and eyelid melanoma exhibits greater molecular similarity to cutaneous melanoma, commonly involving BRAF, NRAS, NF1, and TERT promoter mutations. Despite progress in the molecular characterization of these entities, metastatic disease continues to confer a poor prognosis, particularly in uveal melanoma. Ongoing research into the molecular basis of ocular melanoma is essential to advance targeted therapies and improve clinical outcomes. The aim of this review is to provide a comprehensive overview of ocular melanoma, with a particular focus on the molecular biology underlying its clinical behaviour and emerging therapeutic opportunities.
期刊介绍:
The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).