摘要
目的检测结直肠癌（CRC）组织中KRAS／NRAS、BRAF基因突变情况，探讨与CRC临床病理特征的关系。方法通过探针扩增阻滞突变系统（ARMS）荧光定量PCR法对36例CRC患者同时进行KRAS／NRAS及BRAF基因检测，研究其突变率及与临床特征的相关性。结果36例CRC患者中KRAS／NRAS基因突变19例（52．78％），其中KARS基因突变18例（50．00％），以外显子2（G12C、G12R、G12V、G12A、G13C）突变率最高，占25．00％，其次为外显子2（G12S、G12D）16．67％，外显子2（G13D）2．78％和外显子4（K117N、A146T、A146V、A146P）5．59％，未检测到外显子3突变，其中1例为外显子2上G12S、G12D和G12C、G12R、G12V、G12A、G13C均突变；NRAS基因突变1例（2．78％），为外显子2（G12D、G12S）的点突变，1例直肠中分化腺癌患者在不同时期检测出不同位点的突变。不同性别、年龄、病理分级、转移及部位的KRAS基因突变比较差异均无统计学意义（P〉0．05）。中分化腺癌的NRAS基因突变率比较差异均有统计学意义（P〈0．05）。检测BRAF基因突变1例，突变率为2．78％，临床病理分析低分化癌突变率相对较高，差异有统计学意义（P〈0．05）。KRAS／NRAS基因突变患者未检测到BRAF基因突变。结论CRC组织RAS基因突变以KRAS外显子2上的12、13密码子突变率最高；KRAS／NRAS基因与BRAF基因具有排他性；不同时期、部位基因突变位点也会不同；KRAS／NRAS及BRAF基因检测是结、直肠癌患者分子靶向治疗及预后的重要依据和必要检测手段。
Objective To detect the mutations of KRAS/NRAS and BRAF genes in tissues of coloreetal cancer and explore the correlation with clinicopathological features in colorectal cancer（CRC）. Methods The relativity between mutation rate and clinical features was studied by the detection of KRAS/NRAS and BRAF in 36 patients with coloreetal cancer by means of Amplification Refractory Mutation System（ARMS） and real-time PCR. Results KRAS/NRAS mutations were found in 19 of 36 patients with CRC（52. 78%）, including 18 cases of KRAS mutation（50.00%）, with the highest mutation rate of exon 2 （G12C, G12R, G12V G12A,G13C） ,accounting for 25.00% ,followed by exon 2（G12S,G12D） with mutation rate of 16.67% and exon 2（G13D） ,exon 4 （K117N,A146T,A146V,A146P） with mutation rate of 2.78% and 5.59% ,respectively. No mutation of exon 3 was found and the mutations of G12S,G12D and G12C,G12R,G12V,G12A,G13C of exon 2 were simultaneously found in one case. One case of NRAS mutation was found（point mutation of G12D, G12S of exon 2） and one patient with rectal moderately differentiated adenocarcinoma was found different mutation sites at different stages. The KRAS mutation was not statistically significant in gender, age, pathological grade, metastasis and location（P〉 0.05）, while the mutation rate of NRAS in moderately differentiated adenoearcinoma was sta tistically significant（P〈0.05）. One case of BRAF mutation was found with mutation rate of 2.78%and the mutation rate of poorly differentiated carcinoma in clinicopathologic analysis was relatively high, which was statistically significant （P〈0.05）. No BRAF mutation was found in patients with KRAS/NRAS mutations. Conclusion The mutation rate of 12,13 codon of exon 2 of KRAS is the highest among RAS mutations in colorectal cancer. Exclusiveness is found between KRAS/NRAS and BRAF. The mutation sites are changeable in different stages and locations. The detection of KRAS/NRAS and BRAF is an essential basis and necessary means for molecular tar
出处
《重庆医学》
CAS
北大核心
2017年第A03期67-70,共4页
Chongqing medicine
