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Melanocytic intraocular neoplasms: new possibilities of minimally invasive differential diagnosis
https://doi.org/10.25557/2073-7998.2025.07.89-92
Abstract
Aim: analysis of the frequency of mutations in GNAQ/GNA11 genes in circulating tumour DNA and genotypes of polymorphic marker C3435T of ABCB1 gene.
Methods. Between 2015 and 2022, 272 patients with intraocular melanocytic neoplasms were examined. Patients were divided into study groups (choroidal melanomas, group I (n=141), suspicious, group II (n=67) and beingn, group III (n=64) choroidal nevi).
Results. In group I, at least one mutation in the GNAQ/GNA11 genes was detected in 95%, of which two mutations were detected in 24.8% and three mutations in 11.3% of patients. In group II, one mutation was detected in 73.1%, with two mutations in 4.5% of patients. In group III, one mutation in the GNAQ/GNA11 genes was detected in 13 patients (20.3%). In group II, the frequency of mutations in GNAQ/ GNA11 genes was significantly higher than in group III (OR = 10.68 (4.73 to 24.1), F=0.0000001, ξ2 = 36.64). In group I, the frequency of CC genotype of polymorphic marker C3435T of ABCB1 gene was significantly lower compared to group II, and the frequency of CT genotype was significantly higher compared to group II.
Conclusion. In the present work on 272 patients with intraocular melanocytic neoplasms a direct dependence of the frequency of mutations detection in genes on the size and character of the tumour focus was shown. The obtained results allow both screening of patients from risk groups and differentiation of patients depending on the size and nature of the tumour focus.
About the Authors
S. V. Saakyan
Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine
Russian Federation
Russian Federation
14/19, Sadovaya–Chernogryazskaya st., Moscow, 105062;
4, Dolgorukovskaya st., Moscow, 127006
A. Iu. Tsygankov
Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine
Russian Federation
Russian Federation
14/19, Sadovaya–Chernogryazskaya st., Moscow, 105062;
4, Dolgorukovskaya st., Moscow, 127006
E. B. Myakoshina
Helmholtz National Medical Research Center of Eye Diseases;
Russian University of Medicine
Russian Federation
Russian Federation
14/19, Sadovaya–Chernogryazskaya st., Moscow, 105062;
4, Dolgorukovskaya st., Moscow, 127006
A. M. Burdennyi
Institute of General Pathology and Pathophysiology
Russian Federation
Russian Federation
8, Baltiyskaya st., Moscow, 125315
V. I. Loginov
Institute of General Pathology and Pathophysiology
Russian Federation
Russian Federation
8, Baltiyskaya st., Moscow, 125315
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Review
For citations:
Saakyan S.V., Tsygankov A.I., Myakoshina E.B., Burdennyi A.M., Loginov V.I. Melanocytic intraocular neoplasms: new possibilities of minimally invasive differential diagnosis. Medical Genetics. 2025;24(7):89-92. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.89-92
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