AI Article Synopsis
- * Whole-genome sequencing of 103 UM cases revealed that while most tumors have low mutation rates, two groups with high mutation rates were identified: one linked to a genetic mutation in MBD4 and another related to UV exposure specifically in iris tumors.
- * Nearly all tumors analyzed exhibited mutations in known UM driver genes, and researchers also discovered additional significant mutations in three other genes: TP53, RPL5, and CENPE.
Article Abstract
Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229209 | PMC |
| http://dx.doi.org/10.1038/s41467-020-16276-8 | DOI Listing |
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