Stylianos Mastronikolis1, Maria Adamopoulou2, Dimitrios Roukas3, Sofianiki Mastronikoli4, Panagiotis Fotiades5, Evangelos Tsiambas6, Constantin Georgakopoulos1

1Department of Ophthalmology, Medical School, University of Patras, Patras, Greece;

2Department of Biomedical Sciences, University of West Attica, Athens, Greece;

3Department of Psychiatry, 417 Veterans Army Hospital (NIMTS), Athens, Greece;

4Brighton and Sussex Medical School, UK;

5Department of Surgery, 424 GA Hospital, Thessaloniki, Greece;

6Department of Cytology, 417 Veterans Army Hospital (NIMTS), Athens, Greece.

Uveal melanoma (UM) is the most common primary ocular malignancy, with increased rates observed particularly in middle-aged Caucasian populations. Major factors correlated with an increased risk of UM development and progression include chronic exposure to ultraviolet rays/sunlight, race, gender (males), or some familial hereditary syndromes in sub-groups of patients. Specific genetic signatures at the level of chromosomal instability (CI) characterize sub-groups of patients, affecting the biological behavior of the tumor and leading to aggressive phenotypes such as advanced stage, distant metastases, poor response, and survival rates. Notably, combined chromosome 8 polysomy and chromosome 3 monosomy are particularly significant in this regard. Additionally, numerical and structural imbalances have been reported in chromosomes 1, 6, 8, 9, 11, 18, and 21. In the current molecular review, we present specific chromosome numerical and structural aberrations implicated in UM genetic substrate, creating a variety of genetic signatures in corresponding patients.

Keywords: ocular, uveal, melanoma, genetics, chromosome.

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