非小细胞肺癌EGFR基因第一内含子(CA)n多态性与基因突变及预后的关系  

Relationship among epidermal growth factor receptor gene intron 1(CA) n polymorphisms,gene mutations and prognosis in patients with non-small cell lung cancer

作　　者：王烈 乐涵波 何剑营 陈冬冬 续力云 刘晓光 张永奎 竺王玉 

机构地区：[1]舟山医院胸心外科,316004 [2]舟山医院免疫基因组学联合实验室,316004

出　　处：《浙江医学》2013年第11期1023-1027,共5页Zhejiang Medical Journal

基　　金：浙江省科技厅资助项目(2011C37030)

摘　　要：目的研究非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因第一内含子(CA)n[intron 1(CA)n]多态性与EGFR基因突变的关系,并观察患者的预后。方法观察12g例NSCLC患者生存情况,检测患者手术切除新鲜癌组织或石蜡包埋组织EGFR基因intron 1(CA)n及19、21外显子突变。结果 129例NSCLC患者中,检出EGFR基因突变35例(27.1%),其中EGFR19外显子21例(16.3%),21外显子15例(11.6%)。EGFR intron 1(CA)n出现频率最多的等位基因为(CA)20(38.8%),其次为(CA)16(26.4%)。短(CA)n与EGFR基因突变有关,特别是19外显子突变,差异有统计学意义(均P<0.05),但与21外显子突变无明显相关,差异无统计学意义(P>0.05)。(CA)16与19外显子突变有关,差异有统计学意义(P<0.05)。EGFR基因intron 1短(CA)n与长(CA)n NSCLC患者总生存时间差异无统计学意义(P>0.05)。结论 EGFR第一内含子短(CA)n,特别是(CA)16重复序列可能是影响19外显子缺失突变的一个重要因素。(CA)n多态性不是NSCLC患者预后的危险因素(P>0.05)。Objective To investigate the relationship among epidermal growth factor receptor （EGFR）gene intron I（CA）n polymorphisms, gene mutations and prognosis in patients with non-small cell lung cancer （NSCLC）. Methods The EGFR gene intron I（CA）n polymorphisms, exons 19 and 21 mutation in fresh tissue or paraffin-embedded tissue sections were amplified with PCR, followed by direct sequencing in 129 surgically-removed specimens of NSCLC. Results EGFR mutations were detected in 35 of 129（27.1%）patients with NSCLC. There were 21 cases （16.3%） with mutations in exon 19 and 15 cases （11.6%） with mu- tations in exon 21. EGFR intron I（CA）n was occurred more frequently in（CA）20 allele （50/129, 38.8% ）, followed by（CA）16 allele （34/129, 26.4%）. A genetic association was found between shorter CA alleles and EGFR mutations, especially exon 19 mutations （P〈0.05）, but not exon 21 mutation （P 〉0.05）. （CA）16 allele conferred high capability for retaining EGFR exon19 mutation （P〈 0.05）. There was no significant difference in the overall survival time between patients with EGFR intron I short （CA）n polymor- phisms and with Iong（CA）n polymorphisms（P 〉0.05）. Conclusion EGFR intronl short（CA）n,especially （CA）16 polymorphisms may be involved in the accumulation of the EGFR exon 19 deletions during lung cancer development and （CA）n polymorphisms may be not associated with the prognosis of patients with NSCLC.

关 键 词：非小细胞肺癌 表皮生长因子受体 单核苷酸多态性 基因突变 

分 类 号：R734.2[医药卫生—肿瘤]