1. [Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features].
- Author
-
Saakyan SV, Sklyarova NV, Tsygankov AY, Alikhanova VR, Loginov VI, and Burdenny AM
- Subjects
- Humans, Male, Female, Middle Aged, Diagnosis, Differential, Adult, GTP-Binding Protein alpha Subunits, Gq-G11 genetics, Mutation, Choroid diagnostic imaging, Choroid pathology, GTP-Binding Protein alpha Subunits genetics, Prospective Studies, Choroid Neoplasms genetics, Choroid Neoplasms diagnosis, Hemangioma genetics, Hemangioma diagnosis, Melanoma genetics, Melanoma diagnosis
- 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%).
- Published
- 2024
- Full Text
- View/download PDF