结直肠癌KRAS突变与临床病理特征的关系

摘要

目的 检测结直肠患者KRAS的突变情况,分析KRAS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 1207例结直肠癌KRAS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突变率(46.21%)高于男性(40.46%,P<0.05).KRAS在右半结肠突变率(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,并且多种突变类型可同时存在.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.%Objective To investigate mutation rate and types of KRAS in colorectal carcinoma , and to analyze the relationship between KRAS 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 and to correlate between clinicopathological characteristics and the presence of various KRAS mutations of colorectal carcinoma .Results KRAS mutations were identified in 518 patients ( 42.92%) , including G12D ( 197 cases, 16.32%) , G12V ( 125 cases, 10.36%),G12C(40 cases, 3.31%),G12S(29 cases, 2.40%),G12A(21cases, 1.74%),G12R(7 cases, 0.58%),13D(117 cases, 9.69%).Female patients had a higher KRAS mutation rate than male (46.21%, 238/515 vs.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).Conclusions 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 in the males.The detection rate of KRAS mutation is significantly higher in right colon cancer and in rectal cancer than that in left colon cancer.