临床肿瘤学杂志

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45例中国人眼部恶性黑色素瘤GNAQ突变分析

张虔男,孔燕,梁龙,马家芳,代杰,李怡倩,周琳,王薇,郭军
  

  1. 100142 北京 北京大学临床肿瘤学院 北京肿瘤医院暨北京市肿瘤防治研究所肾癌黑色素瘤内科
  • 收稿日期:2013-04-16 修回日期:2013-05-18 出版日期:2013-07-31 发布日期:2013-07-31
  • 通讯作者: 郭军

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

摘要:

目的 探讨中国人眼部恶性黑色素瘤GNAQ的突变情况,并分析GNAQ突变与眼部黑色素瘤临床病理特征的关系。方法 收集45例中国人眼部恶性黑色素瘤组织标本(葡萄膜黑色素瘤27例,非葡萄膜黑色素瘤18例),采用PCR扩增和基因测序方法检测GNAQ第4、5号外显子突变情况。结果GNAQ在45例眼部恶性黑色素瘤患者中的突变率为35.6%(16/45)。16例突变样本中,Q209突变有12例(75.0%)。GNAQ在葡萄膜黑色素瘤患者中的突变率为51.9%(14/27),在非葡萄膜黑色素瘤患者中的突变率为11.1%(2/18),差异有统计学意义(P=0.005)。GNAQ突变与性别、年龄、有无溃疡和是否发生远处转移均无关。结论GNAQ在中国人眼部恶性黑色素瘤,尤其是葡萄膜黑色素瘤中的突变频率较高,为以GNAQ为靶点的中国人眼部恶性黑色素瘤治疗研究提供了线索。

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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