[Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features].

Q3 Medicine

Vestnik oftalmologii Pub Date : 2024-01-01 DOI:10.17116/oftalma20241400215

S V Saakyan, N V Sklyarova, A Yu Tsygankov, V R Alikhanova, V I Loginov, A M Burdenny

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引用次数: 0

Abstract

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±1.8 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%).

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[环形脉络膜血管瘤和非色素性脉络膜黑色素瘤：临床、仪器和分子遗传特征]。

环状脉络膜血管瘤（CCH）和早期非色素性脉络膜黑色素瘤（CM）具有相似的临床、超声和形态特征，这在某些情况下给它们的鉴别诊断带来了困难。目的：本研究试图开发一种无创分子遗传学鉴别诊断 CCH 和非色素性 CM 的方法：本前瞻性研究根据临床和仪器检查方法的结果，纳入了 60 名 CCH（30 人）和非色素性 CM（30 人）患者（60 只眼）。对照组包括 30 名未患有眼内肿瘤的患者。通过分析从外周血血浆中分离出的肿瘤基因组循环 DNA，采用实时 PCR 方法确定 GNAQ/GNA11 基因的突变情况。平均随访时间为（12.1±1.8）个月：结果：研究发现，GNAQ/GNA11基因第4和第5外显子的突变与非色素性CM的存在有明显关联（27/30；90%）。在CCH患者中未发现这些突变。在健康人对照组中也未检测到 GNAQ/GNA11 基因第 4 和第 5 外显子的突变：本研究提出了一种基于分子遗传学分析的无创、低成本鉴别诊断方法，该方法可检测到 GNAQ 和 GNA11 基因第 4 和第 5 外显子的突变，这些突变对 CCH 具有特异性（90%）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Vestnik oftalmologii Medicine-Ophthalmology

CiteScore

0.80

自引率

0.00%

发文量

129

期刊介绍： The journal publishes materials on the diagnosis and treatment of eye diseases, hygiene of vision, prevention of ophthalmic affections, history of Russian ophthalmology, organization of ophthalmological aid to the population, as well as the problems of special equipment. Original scientific articles and surveys on urgent problems of theory and practice of Russian and foreign ophthalmology are published. The journal contains book reviews on ophthalmology, information on the activities of ophthalmologists" scientific societies, chronicle of congresses and conferences.The journal is intended for ophthalmologists and scientific workers dealing with clinical problems of diseases of the eye and physiology of vision.