{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T05:23:32Z","timestamp":1747200212079,"version":"3.40.5"},"reference-count":27,"publisher":"Media Sphere Publishing House","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rus. Ann. Ophthal."],"published-print":{"date-parts":[[2024,4,23]]},"abstract":"<jats:p>Circumscribed choroidal hemangioma (CCH) and early non-pigmented choroidal melanoma (CM) have similar clinical, ultrasound and morphometric features, which in some cases makes their differential diagnosis difficult. There are few studies in the literature devoted to a comparative analysis of the molecular genetic features of CCH and non-pigmented CM, and the results of those studies are contradictory. Purpose. This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM. Material and methods. Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (n=30) and non-pigmented CM (n=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the GNAQ\/GNA11 genes were determined by real-time PCR using the analysis of genomic circulating tumor DNA isolated from peripheral blood plasma. The average follow-up period was 12.1\u00b11.8 months. Results. The study revealed a significant association of mutations in exons 4 and 5 of the GNAQ\/GNA11 genes with the presence of non-pigmented CM (27\/30; 90%). These mutations were not detected in the group of patients with CCH. Mutations in exons 4 and 5 of the GNAQ\/GNA11 genes were also not detected in the control group of healthy individuals. Conclusion. This study proposes a method of non-invasive and low-cost differential diagnostics based on molecular genetic analysis and detection of mutations in exons 4 and 5 of the GNAQ and GNA11 genes, which are specific for CM (90%).<\/jats:p>","DOI":"10.17116\/oftalma20241400215","type":"journal-article","created":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T09:57:10Z","timestamp":1715680630000},"page":"5","source":"Crossref","is-referenced-by-count":0,"title":["Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features"],"prefix":"10.17116","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8591-428X","authenticated-orcid":false,"given":"S.V.","family":"Saakyan","sequence":"first","affiliation":[{"name":"Helmholtz National Medical Research Center of Eye Diseases","place":["Moscow, Russia"]},{"name":"Russian University of Medicine (ROSUNIMED)","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2180-9960","authenticated-orcid":false,"given":"N.V.","family":"Sklyarova","sequence":"additional","affiliation":[{"name":"Helmholtz National Medical Research Center of Eye Diseases","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9475-3545","authenticated-orcid":false,"given":"A.Yu.","family":"Tsygankov","sequence":"additional","affiliation":[{"name":"Helmholtz National Medical Research Center of Eye Diseases","place":["Moscow, Russia"]},{"name":"Russian University of Medicine (ROSUNIMED)","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-8484","authenticated-orcid":false,"given":"V.R.","family":"Alikhanova","sequence":"additional","affiliation":[{"name":"Helmholtz National Medical Research Center of Eye Diseases","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2668-8096","authenticated-orcid":false,"given":"V.I.","family":"Loginov","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Burdenny","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6743","reference":[{"key":"key-10.17116\/oftalma20241400215-1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2018-313388"},{"key":"key-10.17116\/oftalma20241400215-2","doi-asserted-by":"publisher","DOI":"10.1016\/j.optom.2015.12.006"},{"key":"key-10.17116\/oftalma20241400215-3","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(01)00812-0"},{"key":"key-10.17116\/oftalma20241400215-4","doi-asserted-by":"publisher","DOI":"10.32364\/2311-7729-2020-20-2-56-62"},{"key":"key-10.17116\/oftalma20241400215-5","doi-asserted-by":"publisher","DOI":"10.4103\/2008-322X.170353"},{"key":"key-10.17116\/oftalma20241400215-6","doi-asserted-by":"publisher","DOI":"10.21516\/2072-0076-2019-12-4-99-108"},{"key":"key-10.17116\/oftalma20241400215-7","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjopt.2019.07.002"},{"key":"key-10.17116\/oftalma20241400215-8","unstructured":"Brovkina AF, Amiryan AG, Lelyuk VG. 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