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Ophthalmology. 2011 Feb;118(2):396-401. doi: 10.1016/j.ophtha.2010.05.023.

Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens.

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Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.



To determine the relationship between monosomy 3 and incidence of metastasis after genetic testing of uveal melanoma using fine-needle aspiration biopsy (FNAB).


Noncomparative retrospective case series.


Five hundred patients.


Fine-needle aspiration biopsy was performed intraoperatively immediately before plaque radiotherapy. The specimen underwent genetic analysis using DNA amplification and microsatellite assay. Systemic follow-up was obtained regarding melanoma-related metastasis.


Presence of chromosome 3 monosomy (loss of heterozygosity) and occurrence of melanoma metastasis.


Disomy 3 was found in 241 melanomas (48%), partial monosomy 3 was found in 133 melanomas (27%), and complete monosomy 3 was found in 126 melanomas (25%). The cumulative probability for metastasis by 3 years was 2.6% for disomy 3, 5.3% for partial monosomy 3 (equivocal monosomy 3), and 24.0% for complete monosomy 3. At 3 years, for tumors with disomy 3, the cumulative probability of metastasis was 0% for small (0-3 mm thickness), 1.4% for medium (3.1-8 mm thickness), and 23.1% for large (>8 mm thickness) melanomas. At 3 years, for tumors with partial monosomy 3, the cumulative probability of metastasis was 4.5% for small, 6.9% for medium, and [insufficient numbers] for large melanomas. At 3 years, for tumors with complete monosomy 3, the cumulative probability of metastasis was 0% for small, 24.4% for medium, and 57.5% for large melanomas. The most important factors predictive of partial or complete monosomy 3 included increasing tumor thickness (P = 0.001) and increasing distance to optic disc (P = 0.002).


According to FNAB results, patients with uveal melanoma demonstrating complete monosomy 3 have substantially poorer prognosis at 3 years than those with partial monosomy 3 or disomy 3. Patients with partial monosomy 3 do not significantly differ in outcome from those with disomy 3.

[Indexed for MEDLINE]

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