Spliceosome Mutations in Uveal Melanoma.

Autor: Nguyen JQN; Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Drabarek W; Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Yavuzyigitoglu S; Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Verdijk RM; Department of Pathology, Section Ophthalmic Pathology, Erasmus MC Cancer Institute, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.; Department of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Naus NC; Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Kiliç E; Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Brosens E; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2020 Dec 15; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 15.
DOI: 10.3390/ijms21249546
Abstrakt: 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.
Databáze: MEDLINE
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