Abstract
Key genetic events and their relationship to prognosis in uveal melanoma (UM) have been elucidated recently. While not predictive of metastasis, Gαq pathway mutations are initiating events that are present in almost all UM. Molecular classification based on gene expression profile (GEP) has been found to be more accurate than clinical, histopathologic, and chromosomal prognostic factors, and it has been prospectively validated as a clinical test that is now widely used for routine patient prognostication. The two most important predictors of metastasis in UM are (1) the class 2 GEP caused by loss of BAP1 and (2) aberrant expression of the cancer-testis-antigen PRAME. Driver mutations have received extensive attention in UM to address the need for systemic targeted therapy through the inhibition of downstream signaling pathways.
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Harbour, J.W., Correa, Z.M. (2021). Molecular Basis of Uveal Melanoma and Emerging Therapeutic Targets. In: Bernicker, E.H. (eds) Uveal Melanoma. Springer, Cham. https://doi.org/10.1007/978-3-030-78117-0_1
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DOI: https://doi.org/10.1007/978-3-030-78117-0_1
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