Prognostic fine needle aspiration biopsy of uveal melanoma: Molecular and genetic factors of metastasis risk

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Abstract

Introduction. Molecular genetic testing is actively used for prognostication in patients with uveal melanoma (UM). Tissue for genetic analysis may be obtained either by surgical excision or through fine-needle aspiration biopsy (FNAB). Performing genetic testing and FNAB in each institution can differ in surgical techniques and laboratory methodologies.

Aim. To present our own experience of performing FNAB-based molecular genetic testing for prognostication in patients with uveal melanoma.

Materials and methods. Prognostic FNAB (n = 151) were combined with brachytherapy or stereotactic surgery. Genetic testing was performed by methods based on polymerase chain reaction (GNAQ, GNA11, EIF1AX and SF3B1 mutations) and fluorescence in situ hybridization (copy numbers of PPARG and MYC genes); cytology of FNAB material was also assessed.

Results. Fine-needle aspiration biopsy material was informative in 91 % of cases. At the median follow-up of 36 months, 12 cases of distant metastases were detected. Occurrence of the assessed mutations and copy numbers were related to other representative studies. PPARG deletion was shown to be a significant prognostic factor for metastasis-free survival (p <0,01), which was demonstrated for the first time; EIF1AX and SF3B1 mutations, MYC amplification and cytological class were not shown to be significantly associated with survival in our study.

Conclusion. FNAB-based molecular genetic testing for prognostication in patients with uveal melanoma was shown to be a reliable and highly informative approach. Some of the prognostic factors need to be evaluated further with longer follow-up.

About the authors

V. A. Yarovaya

S. Fyodorov Eye Microsurgery Federal State Institution, Ministry of Health of Russia

Author for correspondence.
Email: verandreevna@gmail.com
ORCID iD: 0000-0001-8937-7450

59a Beskudnikovsky Boulevard, Moscow 127486

Russian Federation

I. A. Levashov

S. Fyodorov Eye Microsurgery Federal State Institution, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-6949-1002

59a Beskudnikovsky Boulevard, Moscow 127486

Russian Federation

A. R. Zaretsky

Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-7778-6617

1 Ostrovityanova St., Moscow 117997

Russian Federation

L. V. Chudakova

Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-8592-1188

1 Ostrovityanova St., Moscow 117997

Russian Federation

V. V. Nazarova

N.N. Blokhin National Medical Russian Research Center of Oncology, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-0532-6061

24 Kashirskoye Shosse, Moscow 115522

Russian Federation

A. D. Matyaeva

S. Fyodorov Eye Microsurgery Federal State Institution, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-7543-619X

59a Beskudnikovsky Boulevard, Moscow 127486

Russian Federation

L. V. Demidov

N.N. Blokhin National Medical Russian Research Center of Oncology, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-8562-6082

24 Kashirskoye Shosse, Moscow 115522

Russian Federation

A. A. Yarovoy

S. Fyodorov Eye Microsurgery Federal State Institution, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-2219-7054

59a Beskudnikovsky Boulevard, Moscow 127486

Russian Federation

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