Uveal Melanoma: GNAQ and GNA11 Mutations in a Greek Population
| Autor: | Dimitrios Brouzas, Eleni Georgopoulou, Filippos Psinakis, Dimitrios Papakonstantinou, Konstantina Dimakopoulou, K. Frangia, Chryssanthy Koutsandrea, Anastasia Katseli, Despina Apostolopoulou, Lina Florentin |
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| Rok vydání: | 2017 |
| Předmět: |
Sanger sequencing
Mutation rate GNA11 business.industry Melanoma Uveal Neoplasm medicine.disease eye diseases Metastasis 03 medical and health sciences symbols.namesake 0302 clinical medicine 030220 oncology & carcinogenesis 030221 ophthalmology & optometry symbols medicine Cancer research Mutation frequency business GNAQ |
| Zdroj: | Anticancer Research. 37 |
| DOI: | 10.21873/anticanres.12010 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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