MUTATIONS IN ONCOGENES GNAQ AND GNA11 IN UVEAL MELANOMA PATIENTS

Introduction.Uveal melanoma (UM) is one of the most frequent intraocular tumors. Mutations in new oncogenes GNAQ and GNA11 are
found in more than 50% of UM. GNAQ gene and its homologue GNA11 are coding the alpha subunit of heterotrimeric G-protein with GTPase
activity. Mutations in these genes lead to the MAPK-pathway activation.
The aim of the study. Study of gene mutations GNAQ and GNA11 in DNA samples UM and their correlation with clinical and
morphological parameters of the tumor.
Methods. We performed the analysis of mutations in exones 4 and 5 in 30 samples, received from the Russian patients with UM, with the
help of restriction fragment length polymorphism (RFLP). UM was proven histologically in all cases. Mutations in exones 4 and 5in GNAQ
and/or GNA11 were revealed in 27 out of 30 samples.
Results. The frequency of mutations in exones 4 and 5 was shown to be in GNAQ as high as 40 and 16,7%, consequently; for GNA11
gene it is 0 and 50%, correspondingly. We revealed the statistically significant association (0,55; p<0,05) between the frequency of glutamine
in 209th position in GNAQ gene mutation with a high retinal detachment.
Conclusions.It should be noted, that the frequency of exon 5 mutation in GNA11 gene in a spindle-cell tumor is 2,8 times higher, than
in the epithelioid-cell tumor. Mutations in oncogenes GNAQ and GNA11 have been examined in Russian patients for the first time.

S.V. Saakyan (1), A.G. Amiryan (1), A.Yu. Tsygankov (1), V.I. Loginov (2), A.M. Burdennyy (2)
1 -The Helmholtz Moscow Research Institute of Eye Diseases, Russian Federation, 105062, Moscow, Sadovaya-Chernogryazskaya street,14/19;
2 -Institute of General Pathology and Pathophysiology RAMS, Russian Federation, 125315, Moscow, street of Baltic, 8