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Updated: Nov 25, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
Published on: September 15, 2021
Spliceosome Mutations in Uveal Melanoma
Josephine Q N Nguyen1,2, Wojtek Drabarek1,2, Serdar Yavuzyigitoglu1,2
1Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
Abstract:
Uveal melanoma (UM) is the most common primary intraocular malignancy of the eye. It has a high metastatic potential and mainly spreads to the liver. Genetics play a vital role in tumor classification and prognostication of UM metastatic disease. One of the driver genes mutated in metastasized UM is subunit 1 of splicing factor 3b (SF3B1), a component of the spliceosome complex. Recurrent mutations in components of the spliceosome complex are observed in UM and other malignancies, suggesting an important role in tumorigenesis. SF3B1 is the most common mutated spliceosome gene and in UM it is associated with late-onset metastasis. This review summarizes the genetic and epigenetic insights of spliceosome mutations in UM. They form a distinct subgroup of UM and have similarities with other spliceosome mutated malignancies.
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