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目的检测结直肠癌组织KRAS、BRAF及PIK3CA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177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、BRAF及PIK3CA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 KRAS基因突变率为37.9%,以Gly12Val突变最多,占总突变率的32.8%;BRAF基因突变率为4.0%;PIK3CA突变率为14.1%,以E542K突变最多,占总突变率的36.0%。BRAF基因突变者共7例,全部为KRAS和PIK3CA野生型的患者;PIK3CA基因突变者共25例,其中19例(76.0%)与KRAS存在共同突变。结论结直肠癌患者KRAS基因突变率较高,KRAS基因突变与淋巴结转移和肿瘤进展相关。联合检测KRAS、BRAF及PIK3CA基因对指导临床制定个体化治疗有重要意义。
Objective To detect the mutation status of KRAS, BRAF and PIK3CA in colorectal cancer and to analyze the relationship between the mutation and clinical features. Methods 177 cases of colorectal cancer surgically resected or biopsy specimens were collected and the DNA was amplified by polymerase chain reaction after probe amplification and mutation arrest. The mutation status of KRAS, BRAF and PIK3CA genes was detected. The relationship between KRAS mutations and clinical features was analyzed. Results The mutation rate of KRAS gene was 37.9%. The Gly12Val mutation accounted for 32.8% of the total mutation rate. The mutation rate of BRAF gene was 4.0%. The mutation rate of PIK3CA was 14.1%. The mutation of E542K accounted for 36.0% of the total mutation rate. A total of 7 cases of BRAF gene mutations were found in all KRAS and PIK3CA wild type patients. A total of 25 PIK3CA mutations were found, of which 19 (76.0%) had co-mutation with KRAS. Conclusion The mutation rate of KRAS gene in patients with colorectal cancer is high. The mutation of KRAS gene is related to lymph node metastasis and tumor progression. The combined detection of KRAS, BRAF and PIK3CA genes is of great importance to guide the clinical development of individualized treatment.