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Updated: Oct 19, 2025
05:46
Implantation and Evaluation of Melanoma in the Murine Choroid via Optical Coherence Tomography
Published on: December 2, 2022
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Mutational landscape in Uveal Melanoma.
Stylianos Mastronikolis1, Maria Adamopoulou, Sotirios Papouliakos
1Department of Ophthalmology, Medical School, University of Patras, Patras, Greece.
Journal of B.U.ON. : Official Journal of the Balkan Union of Oncology
|September 26, 2021
Summary
Uveal melanoma (UM) involves genetic alterations. Specific gene mutations and chromosomal instability create distinct genetic signatures, influencing tumor behavior and patient outcomes.
Area of Science:
- Oncology
- Genetics
- Ophthalmology
Background:
- Uveal melanoma (UM) is the most common primary ocular malignancy.
- UM incidence is rising, particularly in middle-aged Caucasian populations.
- Risk factors include UV exposure, race, male gender, and hereditary syndromes.
Purpose of the Study:
- To review genetic alterations in UM.
- To present a landscape of mutations implicated in UM's genetic substrate.
- To highlight how these mutations create diverse genetic signatures.
Main Methods:
- Molecular review of genetic alterations in UM.
- Analysis of chromosomal and gene-level imbalances.
- Identification of key mutated genes (e.g., BAP1, GNA11, GNAQ).
Main Results:
- UM exhibits chromosomal and gene functional/numerical imbalances.
- Specific genetic signatures (chromosomal instability, gene mutations) characterize UM subgroups.
- Mutations in genes like BAP1, EIF1AX, GNA11, and GNAQ are implicated.
Conclusions:
- Genetic signatures in UM significantly impact tumor behavior.
- These signatures correlate with aggressive phenotypes, including metastasis and poor survival.
- Understanding UM's genetic landscape is crucial for targeted therapies.
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