AI Article Synopsis
- Uveal melanoma (UM) is the most prevalent primary eye cancer, known for its high risk of metastasizing primarily to the liver.
- Genetic factors are crucial for classifying UM and predicting the likelihood of metastatic disease, with notable mutations in the spliceosome complex, particularly in subunit 1 of splicing factor 3b.
- The review discusses the genetic and epigenetic insights of these spliceosome mutations in UM, highlighting their significance and similarities with other cancers having spliceosome mutations.
Article 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 (), 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. 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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765440 | PMC |
| http://dx.doi.org/10.3390/ijms21249546 | DOI Listing |
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