Abstract
Purpose : to analyze the frequency and possible associations of GNAQ and GNA11 oncogenes in peripheral blood ctDNA, as well as the relationship of the ABCB1/MDR1 rs1045642 polymorphic marker gene with the clinical and instrumental characteristics of nevi and initial choroidal melanoma. Material and methods . A prospective study of 81 previously untreated patients (84 eyes, mean age 57.8 ± 13.8 years) included general ophthalmological examinations and special instrumental diagnostics: ultrasound checkups, spectral optical coherent tomography (SOCT), OCT angiography. Depending on the nature of the pathology, the patients were divided into three groups: I — with benign choroidal nevus (23 eyes, 28 %; mean age 61.1 ± 13.6 years); II — with suspicious choroidal nevus (24 eyes, 29 %; mean age 54.8 ± 13.0 years); III — small choroidal melanoma (37 eyes, 43 %; mean age 56.2 ± 14.8 years). Genotyping was performed by melting curve analysis. Results . A significant association was revealed between the presence of ctDNA (GNAQ/GNA11 oncogenes) and the CC genotype of the ABCB1 gene with the risk of developing a small melanoma of the choroid and choroidal nevi. In patients with suspicious choroidal nevus, there is an unfavorable significance of mutations in the GNAQ/GNA11 genes (ctDNA). A relative unfavorable predictive significance of the presence of mutations in the GNAQ/GNA11 genes in peripheral blood ctDNA of patients with a benign choroidal nevus was suggested. No significant associations between GNAQ/GNA11 mutations, ABCB1 gene polymorphism and clinical/instrumental tumor features were found. Conclusion . The revealed features can be used for screening the patients with melanocytic intraocular tumors and for developing modern approaches to predicting the course of UM in the early preclinical period.
Highlights
Purpose: to analyze the frequency and possible associations of GNAQ and GNA11 oncogenes in peripheral blood ctDNA, as well as the relationship of the ABCB1/MDR1 rs1045642 polymorphic marker gene with the clinical and instrumental characteristics of nevi and initial choroidal melanoma
Depending on the nature of the pathology, the patients were divided into three groups: I — with benign choroidal nevus (23 eyes, %; mean age 61.1 ± 13.6 years); II — with suspicious choroidal nevus (24 eyes, %; mean age 54.8 ± 13.0 years); III — small choroidal melanoma (37 eyes, 43 %; mean age 56.2 ± 14.8 years)
A significant association was revealed between the presence of ctDNA (GNAQ/GNA11 oncogenes) and the CC genotype of the ABCB1 gene with the risk of developing a small melanoma of the choroid and choroidal nevi
Summary
GNAQ/G183A, Arg183Gln GNAQ/A209C, Glu209Pro GNA11/C183T, Arg183Cys GNA11/A209T, Glu209Leu АBСB1/rs1045642 (C3435Т). При офтальмоскопии начальные меланомы хориоидеи представляли собой проминирующий очаг под сетчаткой, округлой (n = 13, 35 %), овальной (n = 22, 59,4 %) и неправильной (n = 2, 3,8 %) формы с нечеткими неровными границами, ровной (n = 21, 56,7 %) и неровной (n = 16, 43,2 %) поверхностью. Диагностировали следующие изменения в зоне РПЭ: дезорганизацию РПЭ в области патологического очага во всех глазах; гиперрефлективный материал (n = 28; 75,6 %) между комплексом «РПЭ — МБ» с волнообразной деформацией контура РПЭ; скопление депозитов, расположенных интраретинально (n = 2, 5,4 %) и субретинально (n = 17, 45,9 %) в виде небольших, умеренно гиперрефлективных участков, соответствующих «полям оранжевого пигмента» и зонам дискомплексации РПЭ на поверхности опухоли; локальную отслойку РПЭ с оптически прозрачным содержимым — в 8 (21 %) глазах. Частота мутаций онкогенов GNAQ и GNA11 в цоДНК периферической крови у пациентов с начальной меланомой хориоидеи, невусами хориоидеи и в контрольной группе
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