Spliceosome Mutations in Uveal Melanoma

被引：12

作者：

Nguyen, Josephine Q. N. ^{[1
,2
]}

Drabarek, Wojtek ^{[1
,2
]}

Yavuzyigitoglu, Serdar ^{[1
,2
]}

Medico Salsench, Eva ^{[2
]}

Verdijk, Robert M. ^{[3
,4
,5
]}

Naus, Nicole C. ^{[1
]}

de Klein, Annelies ^{[2
]}

Kilic, Emine ^{[1
]}

Brosens, Erwin ^{[2
]}

机构：

[1] Erasmus MC, Dept Ophthalmol, Univ Med Ctr Rotterdam, NL-3000 CA Rotterdam, Netherlands

[2] Erasmus MC, Dept Clin Genet, Univ Med Ctr Rotterdam, NL-3000 CA Rotterdam, Netherlands

[3] Erasmus MC, Dept Pathol, Sect Ophthalm Pathol, Canc Inst,Univ Med Ctr Rotterdam, NL-3000 CA Rotterdam, Netherlands

[4] Rotterdam Eye Hosp, NL-3011 BH Rotterdam, Netherlands

[5] Leiden Univ, Dept Pathol, Med Ctr, NL-2333 ZA Leiden, Netherlands

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2020年 / 21卷 / 24期

关键词：

genetic; DNA repair; epigenetic; mutational analysis; chromosomes; prognosis; metastatic disease; therapy; SF3B1; MUTATIONS; SPLICING MACHINERY; MALIGNANT-MELANOMA; SOMATIC MUTATIONS; PHASE-I; SURVIVAL; GENES; TARGET; GNAQ; BAP1;

D O I：

10.3390/ijms21249546

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1 / 15

页数：15

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