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Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis1–3. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize. Targeted resequencing showed that 24 of 31 tumors with disomy 3 (77%) had mutations in either EIF1AX (15; 48%) or SF3B1 (9; 29%). Mutations were infrequent (2/35; 5.7%) in uveal melanomas with monosomy 3, which are associated with poor prognosis2. Resequencing of 13 uveal melanomas with partial monosomy 3 identified 8 tumors with a mutation in either SF3B1 (7; 54%) or EIF1AX (1; 8%). All EIF1AX mutations caused in-frame changes affecting the N terminus of the protein, whereas 17 of 19 SF3B1 mutations encoded an alteration of Arg625. Resequencing of ten uveal melanomas with disomy 3 that developed metastases identified SF3B1 mutations in three tumors, none of which targeted Arg625.

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Plaque brachytherapy is an effective eye and vision-sparing method to treat patients with intraocular tumors. Practitioners are encouraged to use ABS-OOTF guidelines to enhance their practice.

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Background: The clinical course of uveal melanoma differs greatly from that of cutaneous melanoma. Methods: Twenty‐four patients with metastatic uveal melanoma (13 men and 11 women; median age at diagnosis, 56 years [range, 17–67 years]) were evaluated retrospectively. Results: Main sites of metastases were liver (87%), lung (46%), bone (29%), and skin (17%). Median relapse‐free survival time was 36 months (range, 5–240 months). Median survival time after clinical detection of metastases was 9 months (range, 1–54 months). Relapse‐free survival time was significantly greater in patients 50 years of age or younger. After manifestation of metastases, the clinical course was more favorable in patients in whom the liver was either not involved at all or not among the first sites of dissemination. These patients had a median survival time of 19 months, compared with 7 months for patients in whom the liver was involved initially. First‐line systemic treatment of metastatic disease yielded three cases of stable disease lasting 6–14 months, but no complete or partial response. Three patients received intraarterial liver perfusion as first‐ or second‐line treatment, resulting in one partial response, which lasted 6 months. Conclusion: Treatment and prognosis results of patients with metastatic uveal melanoma were poor, especially when the disseminated to the liver; survival time of approximately 9 months can be expected.

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