摘要
目的评估结直肠癌患者KRAS与BRAF基因突变情况与临床病理特征的关系,并观察西妥昔单抗联合化疗在术后复发转移的结直肠癌治疗中的疗效,及其与KRAS与BRAF基因状态的关系。方法从结直肠癌石蜡标本中提取基因组DNA。采用直接测序技术检测分析KRAS基因(密码子12,13)和BRAF基因(密码子600)突变。结果结直肠癌患者中KRAS与BRAF基因突变率分别为33.6%(71/211)和5.7%(12/211)。其中KRAS基因12、13密码子突变率分别为26.5%(56/211),7.1%(15/211)。KRAS基因突变率与性别、年龄、肿瘤部位、组织学类型、分化程度、AJCC分期、肠壁浸润深度、淋巴结转移、远处转移等临床病理特征均无显著相关性。BRAF基因突变更常见于老年患者(>65岁),近端结肠,很少出现远处转移。KRAS与BRAF基因V600E突变相互排斥。结论 KRAS基因突变是结直肠癌的常见事件,与临床病理特征均无显著相关性。BRAF基因的突变在结直肠癌患者中很少,突变率仅为5.7%(12/211)。KRAS基因状态是预测西妥昔单抗联合治疗晚期结直肠癌有效性的重要指标。
Objective To identify and assess mutations in the KRAS and BRAF genes in a cohort of Chinese patients with colorectal cancer （CRC） for their association with various clinicopathological parameters and prognosis. To an- alyze the relationship of KRAS gene and efficacy of Cetuximab plus chemotherapy. Method Genomic DNA was isola- ted from Paraffin tissues. Direct sequencing analysis was conducted to detect mutations in the KRAS （eodons 12, 13） and BRAF genes （codon 600）. Result The mutation rates of KRAS and BRAF in Chinese CRC patients were 33.6% （ 71/211 ） and 5.7 % （ 12/211 ） respectively. Mutation frequencies at codon 12,13 were 26.5 % （56/211 ） and 7.1% （15/211 ） respectively. All clinicopathological features, such as age, gender, location of the tumor, his- tological classification, tumor differentiation, Tumor node and Metastases classification, and the AJCC staging, showed no positive relationship with KRAS gene mutations. Mutations in BRAF gene were more common in old pa- tients and proximal colons, but rarely found in mCRC. KRAS and BRAF V600E mutations were mutually exclusive. Conclusion KRAS gene mutation was a common event in Chinese CRC patients, with negative relationship with all clinicopathological features. The BRAF gene was rarely mutated in Chinese CRC patients which mutation rate was 5.7% （ 12/211 ）. KRAS gene status was an important indicator to predict the effectiveness of cetuximab in patients with advanced colorectal cancer.
出处
《中国医刊》
CAS
2013年第7期23-26,共4页
Chinese Journal of Medicine
