{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T09:21:29Z","timestamp":1784193689433,"version":"3.55.0"},"reference-count":109,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T00:00:00Z","timestamp":1714608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>(1) Background: Uveal melanoma (UM) is a common malignant intraocular tumor that presents with significant genetic differences to cutaneous melanoma and has a high genetic burden in terms of prognosis. (2) Methods: A systematic literature search of several repositories on uveal melanoma diagnosis, prognosis, molecular analysis, and treatment was conducted. (3) Results: Recent genetic understanding of oncogene-initiation mutations in GNAQ, GNA11, PLCB4, and CYSLTR2 and secondary progression drivers of BAP1 inactivation and SF3B1 and EIF1AX mutations offers an appealing explanation to the high prognostic impact of adding genetic profiling to clinical UM classification. Genetic information could help better explain peculiarities in uveal melanoma, such as the low long-term survival despite effective primary tumor treatment, the overwhelming propensity to metastasize to the liver, and possibly therapeutic behaviors. (4) Conclusions: Understanding of uveal melanoma has improved step-by-step from histopathology to clinical classification to more recent genetic understanding of oncogenic initiation and progression.<\/jats:p>","DOI":"10.3390\/diagnostics14090958","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T11:39:42Z","timestamp":1714649982000},"page":"958","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Pathological and Molecular Diagnosis of Uveal Melanoma"],"prefix":"10.3390","volume":"14","author":[{"given":"Mihai Adrian","family":"P\u0103s\u0103ric\u0103","sequence":"first","affiliation":[{"name":"Clinical Department of Ophthalmology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Ophthalmology, Clinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9487-2832","authenticated-orcid":false,"given":"Paul Filip","family":"Curc\u0103","sequence":"additional","affiliation":[{"name":"Clinical Department of Ophthalmology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Ophthalmology, Clinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiana Diana Maria","family":"Dragosloveanu","sequence":"additional","affiliation":[{"name":"Clinical Department of Ophthalmology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Ophthalmology, Clinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4499-9392","authenticated-orcid":false,"given":"Alexandru C\u0103lin","family":"Grigorescu","sequence":"additional","affiliation":[{"name":"Department of Oncology, Clinical Hospital of Nephrology Dr. Carol Davila, 010731 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosmin Ionu\u021b","family":"Nisipa\u0219u","sequence":"additional","affiliation":[{"name":"Department of Dental Medicine I, Implant-Prosthetic Therapy, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101041","DOI":"10.1016\/j.preteyeres.2022.101041","article-title":"Metastatic uveal melanoma: The final frontier","volume":"90","author":"Rantala","year":"2022","journal-title":"Prog. 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