{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:28:51Z","timestamp":1790792931837,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,26]],"date-time":"2017-04-26T00:00:00Z","timestamp":1493164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To evaluate clinico\u2010pathological and molecular prognostic factors in a well\u2010defined series of posterior uveal melanoma (<jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content>) with focus on chromosomal aberrations and mutations in the <jats:styled-content style=\"fixed-case\">GNAQ<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNA<\/jats:styled-content>11 and BRCA1\u2010associated protein 1 (BAP1) genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Formalin\u2010fixed paraffin\u2010embedded (FFPE) tissue samples were obtained from 50 consecutive eyes enucleated for <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content> between 1993 and 2005. The material was tested for loss of chromosome 3 and gain of chromosome 8q gene signatures by selective molecular gene markers using multiplex ligation\u2010dependent probe amplification (MLPA), and for <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> mutations in the <jats:styled-content style=\"fixed-case\">GNAQ<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> GNA<\/jats:styled-content>11 and <jats:styled-content style=\"fixed-case\">BAP<\/jats:styled-content>1 genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After a mean follow\u2010up of 83\u00a0months (range, 8\u2013205\u00a0months), 21 patients had died of metastatic <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content> and 16 patients of other causes. Tumour diameter, ciliary body involvement, mixed\/epithelioid cell types, mitotic index, Ki\u201067 proliferation index, loss of chromosome 3 and gain of chromosome 8q showed statistically significant associations with metastatic disease. There were no significant differences in the prevalence of <jats:styled-content style=\"fixed-case\">GNAQ<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">GNA<\/jats:styled-content>11 mutations between patients with or without metastatic disease. Mutational analysis of the <jats:styled-content style=\"fixed-case\">BAP<\/jats:styled-content>1 gene was performed in 32 primary <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content> and in five <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content> liver metastases. Nine different <jats:styled-content style=\"fixed-case\">BAP<\/jats:styled-content>1 missense mutations were identified. <jats:styled-content style=\"fixed-case\">BAP<\/jats:styled-content>1 mutations were not more common in metastasizing than in nonmetastasizing <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The molecular gene markers showing loss of chromosome 3 and gain of 8q gene signatures were associated with an increased risk of metastatic disease. BRCA1\u2010associated protein 1 (BAP1) gene mutation status had no prognostic significance. The frequency and spectrum of <jats:styled-content style=\"fixed-case\">BAP<\/jats:styled-content>1 mutations in <jats:styled-content style=\"fixed-case\">UM<\/jats:styled-content> may be more dependent on ethnicity and demographic variables than hitherto considered.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.13452","type":"journal-article","created":{"date-parts":[[2017,4,26]],"date-time":"2017-04-26T08:36:49Z","timestamp":1493195809000},"page":"31-38","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Prognostic impact of chromosomal aberrations and <scp>GNAQ<\/scp>,<scp> GNA<\/scp>11 and <scp>BAP<\/scp>1 mutations in uveal melanoma"],"prefix":"10.1111","volume":"96","author":[{"given":"Kjersti M.","family":"Staby","sequence":"first","affiliation":[{"name":"Department of Pathology Haukeland University Hospital Bergen 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