基础医学与临床 ›› 2018, Vol. 38 ›› Issue (1): 32-36.

• 研究论文 • 上一篇    下一篇

结直肠癌KRAS基因突变与临床病理特征的关系

晋龙,眭玉霞,王丽萍,陈灵锋,陈小岩   

  1. 福建省立医院病理科
  • 收稿日期:2016-12-12 修回日期:2017-03-22 出版日期:2018-01-05 发布日期:2017-12-26
  • 通讯作者: 眭玉霞 E-mail:suiyuxia0467@sina.com
  • 基金资助:
    RNAi靶向抑制Livin基因对淋巴瘤细胞凋亡机制的研究;RNA干扰技术沉默IAPs家族基因对淋巴瘤细胞凋亡机制的研究

Correlation of KRAS gene mutations and clinicopathological parameters in colorectal carcinoma

  • Received:2016-12-12 Revised:2017-03-22 Online:2018-01-05 Published:2017-12-26

摘要: 目的 检测结直肠患者KRAS基因的突变情况,分析KRAS基因的突变与临床病理特征的关系。方法 应用蝎形探针扩增阻滞突变系统(ARMS)荧光定量PCR技术,检测结直肠癌患者KRAS基因第12和13位密码子的突变情况并分析其与临床病理特征的关系。结果 1 207例结直肠癌KRAS基因突变率为42.92%(518/1207)。第12号密码子6种突变类型,其中G12D突变率16.32%(197/1207);G12V突变率10.36%(125/1207);G12C突变率3.31%(40/1207);G12S突变率2.40%(29/1207);G12A突变率1.74%(21/1207);G12R突变率0.58%(7/1207)。第13号密码子G13D突变率为9.69%(117/1207)。还检测出8种同时存在两种突变类型及一种同时存在3种突变类型。女性患者KRAS基因突变率(46.21%)高于男性(40.46%,P<0.05)。KRAS在右边结肠突变率(46.45%)和直肠突变率(44.50%)均高于左半结肠(37.50%,P<0.05)。结论 结直肠癌KRAS突变有多种类型,存在多种突变类型同时存在。女性患者突变率高于男性患者,右半结肠和直肠突变率均高于左半结肠。

关键词: 关键词:结直肠肿瘤, DNA突变分析, 基因, ras, 聚合酶链反应

Abstract: Objective To investigate mutation rate and types of KRAS gene in colorectal carcinoma, and to analysis the relationship between KRAS gene mutation and clinicopathological parameters in patients with colorectal carcinoma(CRC). Methods Scorpions Amplification Refractory Mutation System(ARMS) fluorescence quantitative PCR was performed to detect the mutations in codons 12 and 13 of KRAS gene and to correlate between clinicopathological characteristics and the presence of various KRAS gene mutations of colorectal carcinoma. Results KRAS mutations were identified in 518 patients(42.92%),including G12D(197cases, 16.32%),G12V(125cases, 10.36%),G12C(40cases, 3.31%),G12S(29cases, 2.40%),G12A(21cases, 1.74%),G12R(7cases, 0.58%),13D(117cases, 9.69%). Female patients had a higher KRAS gene mutation rate than male (46.21%, 238/515vs.40.46%, 280/692, P<0.05). KRAS mutation was significantly higher in right colon cancer(46.45%,131/282)and in rectal cancer(44.50%,255/573)than that in left colon cancer(37.50%,132/352)(P<0.05,P<0.05). Conclusion There are many types of KRAS mutations in colorectal cancer, and many mutation types exist simultaneously.The detection rate of KRAS mutation is higher in female CRC patients than the males. The detection rate of KRAS mutation was significantly higher in right colon cancer and in rectal cancer than that in left colon cancer.

Key words: Key Word:Colorectal neoplasms, DNA mutational analysis, genes, ras, Polymerase chain reaction