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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doi.org/10.3390/ijms21249546, hdl.handle.net/1765/132890
International Journal of Molecular Sciences
Department of Ophthalmology

Nguyen, J.Q.N. (Josephine Q. N.), Drabarek, W. (Wojtek), Yavuzyigitoglu, S, Salsench, E.M. (Eva Medico), Verdijk, R.M, Naus, N.C, … Brosens, E. (2020). Spliceosome mutations in uveal melanoma. International Journal of Molecular Sciences (Vol. 21, pp. 1–15). doi:10.3390/ijms21249546