Molecular genetic testing of uveal melanoma in eye saving treatment
V.A. YAROVAYA1, A.A. YAROVOY1, A.R. ZARETSKY2,3, L.V. DEMIDOV4, V.V. NAZAROVA4, S.S. KLEYANKINA1, A.V. SENDEROVICH4
1S. Fyodorov Eye Microsurgery Federal State Institution, 59a Beskudnikovsky Blvd., Moscow, Russian Federation, 127486
2Evrogen Laboratory LLC, 16/10 Miklukho-Maklaya Str., Moscow, Russian Federation, 117997
3Pirogov Russian National Research Medical University, 1 Ostrovityanov Str., Moscow, Russian Federation, 117513
4N.N. Blokhin National Medical Oncology Center, 23 Kashirskoye shosse, Moscow, Russian Federation, 115230
Yarovaya V.A. ― ophthalmologist, postgraduate student of the Department of Ocular Oncology and Radiology, e-mail: verandreevna@gmail.com
Yarovoy A.A. ― D. Med. Sc., Head of the Department of Ocular Oncology and Radiology, tel. (499) 488-89-43, e-mail: yarovoyaa@yandex.ru
Zaretsky A.R. ― Head of the Department of Molecular Oncology, researcher of Scientific-research Institute for Translational Medicine, e-mail: zaretsky@evrogen.ru
Demidov L.V. ― D. Med. Sc., Professor, Head of the 10th Surgical Department (tumor biotherapy), e-mail: demidov.lev@gmail.com
Nazarova V.V. ― Cand. Med. Sc., oncologist of the 10th Surgical Department (tumor biotherapy), e-mail: jezerovel@gmail.com
Kleyankina S.S. ― Cand. Med. Sc., oncologist of the Department of Ocular Oncology and Radiology, e-mail: k.sveta.z@mail.ru
Senderovich A.I. ― Cand. Med. Sc., Reseacher of the Molecular Pathology Laboratory, Department of Pathology Anatomy of tumors in humans, e-mail: a.senderovich@mail.ru
Objective ― to evaluate the clinical and laboratory results of the first Russian prognostic biopsy of uveal melanoma (UM) in eye-saving treatment (EST).
Material and methods. EST was performed in 60 patients aged from 10 to 84 years (mean ― 52 years) with UM and included Ru-106 brachytherapy (47), gamma-knife radiosurgery (2), transscleral resection (2) and endoresection (9). After cytological research analysis of chromosome 3 was performed. Molecular testing was done in 45 cases and included detection of activating GNAQ and GNA11 hotspot mutations, EIF1AX and SF3B1 genes mutations in exons 1, 2, 6 and exons 14, 15 respectively, gene MYC and PPARG mutations and BAP1 inactivation.
Results and discussion. In all cases the obtained material was sufficient for the research. The only complication of FNAB was vitreous hemorrhage obscuring macula in one patient.
Conclusion. Our modified FNAB technique provided excellent tissue samples of UM for prognostic purposes suitable for all kinds of laboratory testing including cytology, cytogenetic, molecular analysis with wide spectrum of genetic features.
Key words: uveal melanoma, molecular genetic testing, cytogenetic testing.
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