Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Jan 26;15(3):775.
doi: 10.3390/cancers15030775.

Genetics and RNA Regulation of Uveal Melanoma

Cristina Barbagallo  1 , Michele Stella  1 , Giuseppe Broggi  2 , Andrea Russo  3 , Rosario Caltabiano  2 , Marco Ragusa  1
Affiliations
Review

Genetics and RNA Regulation of Uveal Melanoma

Cristina Barbagallo et al. Cancers (Basel). .

Abstract

Uveal melanoma (UM) is the most common intraocular malignant tumor and the most frequent melanoma not affecting the skin. While the rate of UM occurrence is relatively low, about 50% of patients develop metastasis, primarily to the liver, with lethal outcome despite medical treatment. Notwithstanding that UM etiopathogenesis is still under investigation, a set of known mutations and chromosomal aberrations are associated with its pathogenesis and have a relevant prognostic value. The most frequently mutated genes are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1, with mutually exclusive mutations occurring in GNAQ and GNA11, and almost mutually exclusive ones in BAP1 and SF3B1, and BAP1 and EIF1AX. Among chromosomal aberrations, monosomy of chromosome 3 is the most frequent, followed by gain of chromosome 8q, and full or partial loss of chromosomes 1 and 6. In addition, epigenetic mechanisms regulated by non-coding RNAs (ncRNA), namely microRNAs and long non-coding RNAs, have also been investigated. Several papers investigating the role of ncRNAs in UM have reported that their dysregulated expression affects cancer-related processes in both in vitro and in vivo models. This review will summarize current findings about genetic mutations, chromosomal aberrations, and ncRNA dysregulation establishing UM biology.

Keywords: cancer; circRNA; driver mutations; eye; lncRNA; mRNA; melanoma; miRNA.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Amaro A., Gangemi R., Piaggio F., Angelini G., Barisione G., Ferrini S., Pfeffer U. The biology of uveal melanoma. Cancer Metastasis Rev. 2017;36:109–140. doi: 10.1007/s10555-017-9663-3. - DOI - PMC - PubMed
    1. Fallico M., Raciti G., Longo A., Reibaldi M., Bonfiglio V., Russo A., Caltabiano R., Gattuso G., Falzone L., Avitabile T. Current molecular and clinical insights into uveal melanoma (Review) Int. J. Oncol. 2021;58:1. doi: 10.3892/ijo.2021.5190. - DOI - PMC - PubMed
    1. Kaliki S., Shields C.L. Uveal melanoma: Relatively rare but deadly cancer. Eye. 2016;31:241–257. doi: 10.1038/eye.2016.275. - DOI - PMC - PubMed
    1. Krantz B.A., Dave N., Komatsubara K.M., Marr B.P., Carvajal R.D. Uveal melanoma: Epidemiology, etiology, and treatment of primary disease. Clin. Ophthalmol. 2017;11:279–289. doi: 10.2147/OPTH.S89591. - DOI - PMC - PubMed
    1. McLaughlin C.C., Wu X.-C., Jemal A., Martin H.J., Roche L.M., Chen V.W. Incidence of noncutaneous melanomas in the U.S. Cancer. 2005;103:1000–1007. doi: 10.1002/cncr.20866. - DOI - PubMed

LinkOut - more resources