Uveal Melanoma: GNAQ and GNA11 Mutations in a Greek Population.
BACKGROUND/AIM
Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years, meticulous cytogenetic and molecular profiling has led to precise prognostication, that unfortunately is not matched by advancements in adjuvant therapies. G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma. Understanding their prognostic significance can allow tailored management and facilitate their use in the on-going quest of targeted uveal melanoma therapies.


MATERIALS AND METHODS
Formalin-fixed, paraffin-embedded specimens were obtained from 47 patients of Greek origin, with uveal melanoma. GNAQ and GNA11 genes were screened for mutations in exons 4 and 5, by polymerase chain reaction and Sanger sequencing.


RESULTS
The overall mutation frequency of GNAQ/GNA11 genes was 42.4%. A novel mutation c.625_626delinsGC was identified in GNA11. No correlation was observed between the mutation status and metastasis occurrence or overall survival time of patients.


CONCLUSION
Mutations in GNAQ and GNA11 genes in this Greek population present frequencies that qualify them as potential targets for customized therapy.
['Psinakis|Filippos|F|', 'Katseli|Anastasia|A|', 'Koutsandrea|Chryssanthy|C|', 'Frangia|Konstantina|K|', 'Florentin|Lina|L|', 'Apostolopoulou|Despina|D|', 'Dimakopoulou|Konstantina|K|', 'Papakonstantinou|Dimitrios|D|', 'Georgopoulou|Eleni|E|', 'Brouzas|Dimitrios|D|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D014408:Biomarkers, Tumor D004252:DNA Mutational Analysis D005260:Female D044385:GTP-Binding Protein alpha Subunits D043802:GTP-Binding Protein alpha Subunits, Gq-G11 D020022:Genetic Predisposition to Disease D006115:Greece D006801:Humans D053208:Kaplan-Meier Estimate D008297:Male D008875:Middle Aged D009154:Mutation D059645:Mutation Rate D010641:Phenotype D011379:Prognosis D012307:Risk Factors D013997:Time Factors D014604:Uveal Neoplasms
Uveal melanoma GNAQ GNA11 Sanger-sequencing