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Maria Pefkianaki, Arman Mashayekhi, Enzo Fulco, Vanessa Fulco, Jerry A Shields, Carol L Shields; Cytogenetic evaluation of 32 patients with uveal melanoma photographically documented to originate from choroidal nevus. Invest. Ophthalmol. Vis. Sci. 2016;57(12):5890.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the cytogenetic alterations of chromosome 3, 6, 8 in uveal melanomas photographically documented to originate from a choroidal nevus.
Retrospective, observational case series including 32 eyes of 32 patients. The clinical records of patients with uveal melanomas photographically documented to originate from a choroidal nevus that had undergone fine-needle aspiration biopsy (FNAB) for genetic testing for chromosome 3, 6 and 8 between January 2006 and September 2015 were reviewed.
The median patient’s age at the time of diagnosis of choroidal nevus was 56 years (58.5, 10-83 years). All patients were Caucasian and 21 (66%) were female. None of the patients had family history of uveal melanoma. The median interval between diagnosis of choroidal nevus and transformation into choroidal melanoma was 42 months (54; 4-212 months). At the time of diagnosis of choroidal melanoma, the median tumor thickness by ultrasound was 3.3 mm (mean, 3.0 mm; range, 1.9-8.1 mm). Orange pigment and subretinal fluid were present in 15 (47%) and 25 (78%) of the choroidal melanomas, respectively. Based on the cytogenetic analysis, 17 patients (53%) had high-risk cytogenetic findings predictive of higher risk of future distant metastasis. The rate of high-risk cytogenetic findings correlated with the interval between diagnosis of choroidal nevus and transformation into choroidal melanoma was 5 (83%) in patients with interval of less than one year, and 12 (46,1%) when the interval was more than one year (p-value is .09, result is significant at p < .10)
To our knowledge, this is the first study on the cytogenetic analysis of chromosomes 3, 6 and 8 in uveal melanomas photographically documented to originate from a choroidal nevus. Our findings show that choroidal nevi with more rapid transformation into choroidal melanoma are more likely to have high-risk cytogenetic features predictive of future distant metastasis.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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