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Saakyan S.V.

Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine (ROSUNIMED)

Sklyarova N.V.

Helmholtz National Medical Research Center of Eye Diseases

Tsygankov A.Yu.

Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine (ROSUNIMED)

Alikhanova V.R.

Helmholtz National Medical Research Center of Eye Diseases

Loginov V.I.

Institute of General Pathology and Pathophysiology

Burdennyy A.M.

Institute of General Pathology and Pathophysiology

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

Authors:

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

More about the authors

Journal: Russian Annals of Ophthalmology. 2024;140(2): 5‑13

DOI: 10.17116/oftalma20241400215

Read: 1729 times

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Table of contents

CIRCUMSCRIBED CHOROIDAL HEMANGIOMA AND NON-PIGMENTED CHOROIDAL MELANOMA: CLINICAL, INSTRUMENTAL AND MOLECULAR GENETIC FEATURES
CIRCUMSCRIBED CHOROIDAL HEMANGIOMA AND NON-PIGMENTED CHOROIDAL MELANOMA: CLINICAL, INSTRUMENTAL AND MOLECULAR GENETIC FEATURES

To cite this article:

Saakyan SV, Sklyarova NV, Tsygankov AYu, Alikhanova VR, Loginov VI, Burdennyy AM. Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features. Russian Annals of Ophthalmology. 2024;140(2):5‑13. (In Russ.)
https://doi.org/10.17116/oftalma20241400215

Подписка 2026 Вестник офтальмологии (Russian Annals of Ophthalmology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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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%).

Keywords:

circumscribed choroidal hemangioma
non-pigmented choroidal melanoma
uveal melanoma
GNAQ
GNA11

Authors:

Saakyan S.V.

Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine (ROSUNIMED)

Sklyarova N.V.

Helmholtz National Medical Research Center of Eye Diseases

Tsygankov A.Yu.

Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine (ROSUNIMED)

Alikhanova V.R.

Helmholtz National Medical Research Center of Eye Diseases

Loginov V.I.

Institute of General Pathology and Pathophysiology

Burdennyy A.M.

Institute of General Pathology and Pathophysiology

Received:

16.11.2022

Accepted:

28.12.2022

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