基础医学与临床 ›› 2014, Vol. 34 ›› Issue (12): 1671-1675.

• 研究论文 • 上一篇    下一篇

胃癌组织中PIK3CA基因热点突变筛查及临床意义

郝兰香,潘超,蔡建春   

  1. 厦门大学附属中山医院
  • 收稿日期:2014-04-17 修回日期:2014-06-21 出版日期:2014-12-05 发布日期:2014-11-25
  • 通讯作者: 潘超 E-mail:panchaolkzd@yahoo.com.cn
  • 基金资助:
    福建省卫生厅青年科研基金

Screening for mutations in the hotspot mutation regions of PIK3CA gene in gastric cancer and clinical value

  • Received:2014-04-17 Revised:2014-06-21 Online:2014-12-05 Published:2014-11-25

摘要: 目的 检测中国人群胃癌组织中PIK3CA基因突变频率及热点突变模式,探讨PIK3CA基因突变的临床意义。方法 应用荧光PCR法筛查胃癌PIK3CA基因突变阳性病例,Sanger DNA测序法检测PIK3CA基因热点突变模式;统计分析PIK3CA基因突变与胃癌临床病理特征之间的关系。结果 400例肿瘤标本中检测出PIK3CA基因突变率为7.5%(30/400),突变位点主要集中在第9外显子(E542K,E545K)和第20外显子(H1047R, H1047L);且PIK3CA基因突变与肿瘤预后相关(P<0.05),而与肿瘤大小、组织学分级、淋巴结状态、患者年龄等因素无关。结论 中国人群胃癌组织中PIK3CA基因突变具独特的突变频率与突变模式;PIK3CA基因突变对于胃癌预后判断及基因靶向治疗具潜在临床价值。

关键词: PIK3CA, 胃癌, 预后, 荧光PCR法

Abstract: Objective To detect the PIK3CA gene mutation in Chinese gastric cancer, and analysis the clinical value . Methods Fluorescence PCR was used to screen the positive case of gastric cancer PIK3CA genes mutated and Sanger DNA sequencing method was used to detect the hotspot mutation regions of PIK3CA, Analysis the relationship between the gene mutation and clinicopathological character. Results PIK3CA gene mutations were detected in 7.5% (30/400) of tumor samples, and the gene mutation position mainly focused on exon 9(E542K,E545K) and exon 20(H1047R, H1047L), the gene mutation of PIK3CA seemed to be closely related with the prognosis(P<0.05),but not with the size of tumor, pathological grade, lymph node metastasis and the age of patient. Conclusion The rate and the hotspot mutation regions of PIK3CA in gastric cancer among Chinese is unique, PIK3CA gene mutation might be an important indicator to evaluate gastric cancer prognosis and a new target for tumor gene therapy.

Key words: PIK3CA, gastric cancer, prognosis, fluorescence PCR

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