Chinese Clinical Oncology

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Analysis of GNAQ mutations in 45 Chinese patients with ocular melanomas

ZHANG Qiannan, KONG Yan, LIANG Long, MA Jiafang, DAI Jie, LI Yiqian, ZHOU Lin,WANG Wei,GUO Jun.
  

  1. Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Department of Renal Cancer and Melanoma, Peking University School of Oncology, Beijing Cancer Hospital & Institute, Beijing 100142, China
  • Received:2013-04-16 Revised:2013-05-18 Online:2013-07-31 Published:2013-07-31
  • Contact: GUO Jun

Abstract:

Objective To investigate the frequency of GNAQ mutation in Chinese patients with ocular melanoma and further analyze the relationship between GNAQ mutation and the clinicopathological features of ocular melanoma. Methods A total of 45 ocular melanoma patients(27 uveal melanomas and 18 nonuveal melanomas)were analyzed for mutations in exons 4 and 5 of GNAQ in genomic DNA by PCR amplification and sanger direct sequencing. Results GNAQ mutation rate in ocular melanoma was 35.6%(16/45). In the 16 mutate samples,12 occurred in Q209(75.0%). The frequency of GNAQ mutation in uveal melanomas was 51.9%(14/27) evidently higher than 111%(2/18)in the nonuveal melanomas with statistical significance(P=0.005). There were no significant differences between GNAQ mutation and gender,age,ulceration or distant metastasis. Conclusion Frequent mutations of GNAQ are detected in Chinese patients with ocular melanoma,especially in the uveal melanomas. It provides the clue for the future research about treatment towards GNAQ as a target.

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