四川地区肺腺癌中EGFR基因19、21外显子突变研究

Study of exons 19 and 21 mutations of epidermal growth factor receptor gene in patients with lung adenocarcinoma of Sichuan Province

目的探讨EGFR基因19、21外显子突变与肺癌组织学类型、人种、年龄、性别、是否吸烟和所在地域的关系。方法收集65例四川地区肺腺癌患者石蜡包埋组织样本,选用针对19、21外显子的野生型和突变型基因的特异性引物,采用等位基因特异性寡核苷酸PCR法(allele-specific oligonucleotide polymerase chain reaction,ASO-PCR)检测突变。结果 65例肺腺癌样本中,35例发生19、21外显子突变(53.85%),其中19外显子缺失突变13例(20%),21外显子L858R错义突变23例(35.38%);男性38.24%(13/34),女性70.97%(22/31);吸烟者31.25%(5/16),非吸烟者61.22%(30/49);≤60岁的患者为57.14%(16/28),>60岁的患者为51.35%(19/37)。结论 65例四川地区原发肺腺癌中EGFR基因19、21外显子突变在女性、非吸烟患者中更常见(P<0.05),其中21外显子L858R突变率高于19外显子缺失率(P<0.05)。与文献报道比较,肺腺癌EGFR基因总突变率较其他类型肺癌高,且高于白种人。

Purpose To detect mutation and deletion of exons 19 and 21 of epidermal growth factor receptor gene （EGFR） in 65 patients with pulmonary adenoearcinoma in Sichuan province, with comparison of the differences in race, age, sex, smoking as well as district features. Methods 65 cases of paraffin embedded tissue of pulmonary adenocarcinoma were collected, and analyzed with prim- ers to wild-type and mutated genes of exons 19 and 21 by allele-specific oligonucleotide polymerase chain reaction （ASO-PCR）. Results In 65 cases of pulmonary adenoeareinoma, abnormality of EGFR was observed in 35 cases （53.85%） , including deletion of exon 19 （13 cases, 20% ）, and mutation of exon 21 （23 cases, 35.38% ）. Mutation rate in female and male patients was 70. 97% （22/31） and 38.24% （13/34） , in no-smoking and smoking patient was 61.22% （30/49） and 31.25% （5/16） , in patient less than and more than 60 years old was 57. 14% （ 16/28 ） and 51.35 % （ 19/37 ） respectively. Conclusions In 65 case of primary pulmonary adenocarcinoma in Sichuan province, the EGFR exons 19 and 21 mutations are more commonly found in female and no-smoking patients. In addition, the mutation of EGFR exon 21 L858R is more commonly detected than that of exon 19 deletion. Compared with that reported in literatures, the percentage of EGFR mutation in pulmonary adenocarcinoma in Sichuan Chinese is higher than that of other subtypes of lung cancer, as well as the Caucasian people.