摘要
目的检测结直肠癌组织KRAS、NRAS及BRAF基因突变状态,分析突变与临床特征的关系。方法收集结直肠癌手术切除或穿刺活检标本218例,提取DNA经探针扩增阻滞突变系统聚合酶链反应扩增后,检测KRAS、NRAS及BRAF基因的突变状态,分析结直肠癌组织中3个基因间突变的内在关系,并分析KRAS突变与临床特征的关系。结果 218例CRC中,KRAS基因突变率为37.6%(82/218);NRAS基因突变率为4.1%(9/218);BRAF突变率为3.7%(8/218),在136例KRAS野生型病例中NRAS与BRAF的突变频率为6.6%(9/136)和5.9%(8/136)。BRAF与KRAS、NRAS基因突变相互排斥。KRAS基因突变更倾向发生于Ⅲ~Ⅳ期(P=0.014)和淋巴结转移的患者(P=0.049),与年龄、性别、肿瘤部位、分化程度等病理特征无关(P>0.05)。NRAS和BRAF基因突变与病理特征无关(P>0.05)。结论结直肠癌患者的KRAS突变速率较高,KRAS突变与淋巴结转移和肿瘤进展相关。联合检测KRAS、NRAS及BRAF基因,能正确指导和选择抗EGFR单抗药,实现个体化治疗的目标。
Objective To detect colorectal cancer tissue KRAS, NRAS and mutated BRAF gene mutation status, the relations between the mutation and clinical characteristics. Method Collect colorectal cancer resec- tion or biopsy specimens of 218 cases, DNA extracted by the probe amplification system block mutations PCR amplification, detection of KRAS, NRAS and mutated BRAF gene mutation status, analysis between three genes mutated in colorectal cancer tissue intrinsic relations, and analyzes the relations between KRAS mutations and clinical characteristics. Results Of 218 cases of CRC, KRAS mutation rate was 37.6 % （82/218） ; NRAS mutation rate was 4.1% （9/218） ; BRAF mutation rate was 3.7% （8/218）, in the 136 cases KRAS wild - type NRAS and BRAF mutation frequency was 6.6% （9/136） and 5.9% （8/136）. BRAF with KRAS, NRAS mu- tation mutually exclusive. KRAS mutations are more likely occur in the Ⅲ -Ⅳ- stage（P = 0. 014） and pa- tients with lymph node metastasis（P = 0. 049）, with age, sex, tumor location, degree of differentiation, and other pathological features irrelevant（ P 〉 0.05）. NRAS and mutated BRAF gene mutation has nothing to do with the pathological characteristics （P 〉 0.05）. Conclusion Colorectal cancer patients with KRAS mutation rate is higher, KRAS mutations associated with lymph node metastasis and tumor progression. Combined detec- tion of KRAS, NRAS and mutated BRAF gene, can correct guidance and select EGFR sheet resistance, resis- tance to realize individualized target therapy in the true sense.
出处
《内蒙古医学杂志》
2017年第1期4-7,共4页
Inner Mongolia Medical Journal
基金
内蒙古自治区人民医院科研项目
