Long-term survival of uveal melanoma patients after enucleation, depending on molecular genetic aberrations

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Abstract

Rationale: In the recent years molecular genetic prognostic factors are becoming very important for predicting the course of uveal melanoma (UM). In clinical practice, molecular genetic methods are used to identify patients with a high risk of metastases.

Aim: To determine the survival of UM patients after enucleation, depending on molecular genetic aberrations.

Materials and methods: Thirty (30) patients with UM aged from 23 to 83 years were examined and treated. In all cases, enucleation was performed. The removed eyes underwent morphological and molecular genetic and cytogenetic analysis (loss of heterozygocity on chromosomes 1, 3 and 8, methylation of the RASSF1A gene, mutations in GNAQ/11 genes, polymorphism of the ABCB1 gene). The median follow-up was 61 months.

Results: The cumulative 3-year survival of the UM patients was 77.8 ± 8.0%, and the 5-year survival 63.0 ± 9.0%. The mean survival time was 52.8 ± 3.9 months. The patients with chromosome 3 monosomy showed significantly lower 5-year survival rates than the patients with partial monosomy and without loss of heterozygocity in chromosome 3 (log-rank test, χ2 = 14.111, p = 0.001). The loss of heterozygocity on chromosomes 1 and 8, the methylation of the RASSF1A gene, the mutations in GNAQ/11 genes, and the polymorphism of the ABCB1 gene were not associated with poorer vital prognosis.

Conclusion: Molecular genetic aberrations play an important role in predicting the course of the tumor process and determining the risk of hematogenous metastasizing in UM patients. The significant role of chromosome 3 monosomy has been proved. Due to the relatively small cohort (30 patients) and the time factor (analysis of 5-year survival), the role of other molecular genetic changes has not been confirmed, which requires an assessment of not only genetic, but also clinical, echographic and morphological prognostic factors.

About the authors

V. V. Neroev

Moscow Helmholtz Research Institute of Eye Diseases

Email: fake@neicon.ru

Vladimir V. Neroev – MD, PhD, Professor, Member-Correspondent of Russian Academy of Sciences, Director 

14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062

Russian Federation

S. V. Saakyan

Moscow Helmholtz Research Institute of Eye Diseases

Email: fake@neicon.ru

Svetlana V. Saakyan – MD, PhD, Professor, Head of Department of Ophthalmic Oncology and Radiology 

14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062

Russian Federation

A. G. Amiryan

Moscow Helmholtz Research Institute of Eye Diseases

Author for correspondence.
Email: amiryan@yandex.ru

Anush G. Amiryan – MD, PhD, Leading Research Fellow, Department of Ophthalmic Oncology and Radiology 

14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062

Russian Federation

A. Yu. Tsygankov

Moscow Helmholtz Research Institute of Eye Diseases

Email: fake@neicon.ru

Alexander Yu. Tsygankov – MD, PhD, Junior Research Fellow, Department of Ophthalmic Oncology and Radiology 

14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062

Russian Federation

A. M. Burdennyy

Institute of General Pathology and Pathophysiology

Email: fake@neicon.ru

Alexey M. Burdennyy – PhD (in Biology), Senior Research Fellow, Laboratory of Pathogenomics and Transcriptomics 

8 Baltiyskaya ul., Moscow, 125315

Russian Federation

V. I. Loginov

Institute of General Pathology and Pathophysiology

Email: fake@neicon.ru

Vitaly I. Loginov – PhD (in Biology), Leading Research Fellow, Laboratory of Pathogenomics and Transcriptomics 

8 Baltiyskaya ul., Moscow, 125315

Russian Federation

M. R. Khlgatyan

Moscow Helmholtz Research Institute of Eye Diseases

Email: fake@neicon.ru

Mariam R. Khlgatyan – MD, Opthalmologist, Postgraduate Student, Department of Ophthalmic Oncology and Radiology

14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062

Russian Federation

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Copyright (c) 2018 Neroev V.V., Saakyan S.V., Amiryan A.G., Tsygankov A.Y., Burdennyy A.M., Loginov V.I., Khlgatyan M.R.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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