Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens.
OBJECTIVE
To determine the relationship between monosomy 3 and incidence of metastasis after genetic testing of uveal melanoma using fine-needle aspiration biopsy (FNAB).


METHODS
Noncomparative retrospective case series.


METHODS
Five hundred patients.


METHODS
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.


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


RESULTS
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).


CONCLUSIONS
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.
Shields
Carol L
CL
Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. shields@shieldsoncology.com
Ganguly
Arupa
A
Bianciotto
Carlos G
CG
Turaka
Kiran
K
Tavallali
Ali
A
Shields
Jerry A
JA
D000782:Aneuploidy; D001707:Biopsy, Needle; D001918:Brachytherapy; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D019656:Loss of Heterozygosity; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology / Q000532:radiotherapy; D018895:Microsatellite Repeats; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D011379:Prognosis; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000532:radiotherapy
D004273:DNA, Neoplasm