Unilateral multifocal uveal melanoma (a clinical and genetic study)

Saakian S.V.

Moscow Helmholtz Research Institute of Eye Diseases, Moscow, Russia

Parmon Ya.V.

Helmholtz Moscow Research Institute of Eye Diseases, 14/19 Sadovaya-Chernogryazskaya St., Moscow, Russian Federation, 105062

Tsygankov A.Iu.

FGBU "Moskovskiĭ NII glaznykh bolezneĭ im. Gel'mgol'tsa" Minzdrava Rossii

Amirian A.G.

FGBU "Moskovskiĭ NII glaznykh bolezneĭ im. Gel'mgol'tsa" Minzdrava Rossii

Burdennyy A.M.

Institute of General Pathology and Pathophysiology, 8 Baltiiskaya St., Moscow, Russian Federation, 125315

Unilateral multifocal uveal melanoma (a clinical and genetic study)

Authors:

Saakian S.V., Parmon Ya.V., Tsygankov A.Iu., Amirian A.G., Burdennyy A.M.

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Journal: Russian Annals of Ophthalmology. 2018;134(5): 78‑85

DOI: 10.17116/oftalma201813405178

Downloaded: 29

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To cite this article:

Saakian SV, Parmon YaV, Tsygankov AIu, Amirian AG, Burdennyy AM. Unilateral multifocal uveal melanoma (a clinical and genetic study). Russian Annals of Ophthalmology. 2018;134(5):78‑85. (In Russ.)
https://doi.org/10.17116/oftalma201813405178

Подписка 2025 (Russian Annals of Ophthalmology)

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The study presents clinical and genetic analysis of a case of unilateral multifocal uveal choroidal melanoma in a patient of 67 years. Results of ophthalmoscopy, echography, fluorescent angiography, optical coherence tomography are described. Molecular genetic testing of peripheral blood samples was performed, including detection of the occurrences of CC genotype in C3435T polymorphism of the gene ABCB1/MDR1 associated with unfavorable vital prognosis. Analysis of the genes GNAQ and GNA11 revealed two mutually exclusive mutations in the genes GNAQG183A and GNAQA209C showing genetic heterogeneity of the two tumor lesions. Organ preservation treatment of unilateral multifocal uveal melanoma was proven possible with brachytherapy method. Uveal melanoma with multicentric growth is of interest to ophthalmologists because it requires differential diagnostics from a variety of diseases including metastases in the choroid, such as metastases of uveal melanoma and skin melanoma, as well as other intraocular neoplasms.

Keywords:

uveal melanoma

multifocal thin-needle aspiration biopsy

polymorphism of ABCB1 gene

mutations in GNAQ/GNA11 genes

brachytherapy

Authors:

Saakian S.V.

Moscow Helmholtz Research Institute of Eye Diseases, Moscow, Russia

Parmon Ya.V.

Helmholtz Moscow Research Institute of Eye Diseases, 14/19 Sadovaya-Chernogryazskaya St., Moscow, Russian Federation, 105062

Tsygankov A.Iu.

FGBU "Moskovskiĭ NII glaznykh bolezneĭ im. Gel'mgol'tsa" Minzdrava Rossii

Amirian A.G.

FGBU "Moskovskiĭ NII glaznykh bolezneĭ im. Gel'mgol'tsa" Minzdrava Rossii

Burdennyy A.M.

Institute of General Pathology and Pathophysiology, 8 Baltiiskaya St., Moscow, Russian Federation, 125315

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