Close to 30 years ago, 3 research groups independently described chromosomal abnormalities in primary uveal melanoma, with all 3 highlighting the presence of monosomy 3 in some of the examined cases. All groups proposed that monosomy 3 may play an important role in uveal melanoma progression. This theory was later confirmed by Prescher and colleagues,1 who examined the outcome of 54 patients with primary uveal melanoma, 30 (55%) of whom had monosomy 3 tumors, with 17 of these 30 patients (57%) dying of the disease within 3 years. In the meantime, numerous research groups have confirmed the significance of monosomy 3 loss in primary uveal melanoma. Damato et al2 used cytogenetic testing of consented patients with primary uveal melanoma to stratify these patients into risk groups with respect to metastasis development and to assess liver surveillance management. In the meantime, molecular genetic testing has been incorporated into algorithms that integrate other known strong prognostic factors to refine metastatic risk.3 During the past decade, understanding of the underlying mutations present in primary uveal melanoma and how these may be associated with the described chromosomal alterations has advanced significantly.4 Of particular importance is the gene BAP1 (3p21.31-p21.2) and its temporal and functional association with the loss of 1 copy of chromosome 3.
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Coupland SE, Thornton S, Kalirai H. Importance of Partial Losses of Chromosome 3 in Uveal Melanoma in the BAP1 Gene Region. JAMA Ophthalmol. 2020;138(2):188–189. doi:10.1001/jamaophthalmol.2019.5491
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