新疆原发性肺腺癌表皮生长因子受体基因突变与临床病理特征分析

目的：探讨新疆原发性肺腺癌中表皮生长因子受体（epidermal growth factor receptor, EGFR）基因突变情况及与临床病理特征的关系。方法：采用扩增阻滞突变系统(amplification refractory mutation system，ARMS)荧光PCR法对59 例（维吾尔族15例，汉族44例）新疆维吾尔族及汉族原发性肺腺癌手术切除标本进行EGFR基因第18-21号外显子的突变检测，同时分析其与患者临床病理特征的关系。结果：在新疆地区原发性肺腺癌手术切除标本患者中，EGFR基因突变率维吾尔族低于汉族，分别为20%（3/15）和54.5%（24/44），差异具有统计意义（P<0.05）；其中EGFR外显子19缺失突变维吾尔族2例，汉族9例，外显子21L858R突变维吾尔族1例，汉族12例，外显子18G719X突变汉族2例，外显子21L861Q突变汉族1例。在病理组织学类型上，腺泡状为主型腺癌EGFR突变率为71%（22/31），高于实性为主型EGFR突变率6.7%（1/15）和黏液腺癌EGFR突变率20%（1/5）。EGFR基因突变与维吾尔族或汉族肺腺癌患者的性别、年龄、部位、大体类型、淋巴结转移情况、吸烟指数及临床分期等差异无统计学意义（P>0.05）。结论：新疆原发性肺腺癌EGFR基因突变率在维吾尔族与汉族有不同，可能反映民族遗传差异性，值得进一步研究。EGFR基因突变常见于高 中分化腺癌，或以腺泡状为主型多见。

Analysis of epidermal growth factor receptor mutations and its clinico-pathologic characteristics of the primary lung adenocarcinoma in Xinjiang Uighur Autonomous Region

Objective:To clarify the relationship between epidermal growth factor receptor (EGFR) mutations and the clinicopathologic features of primary lung adenocarcinomas in Xinjiang.Methods:The mutations of EGFR gene at exons 18 -21 in 59 cases (including 15 cases of Uighur and 44 cases of Han) of lung adenocarcinoma tissues,which were obtained from surgical resection,were detected by amplifica-tion refractory mutation system (ARMS)method.And the relationships among mutations,race and clini-copathologic features were analyzed.Results:The frequencies of EGFR mutations in lung adenocarcinoma were 20% for Uighur,which was lower than that in Han (54.5%),P <0.05.The deletion mutations at exon 19 were seen in 2 of 15 Uighur cases and 9 of 44 Han cases.EGFR mutations were present,inclu-ding exon 21 L858R in one Uighur case and 12 Han cases,exon 18 G719X in two of 44 cases of Han, exon 21 L861Q in one of them.On histological type,the frequencies of EGFR mutation in alveolar pre-dominant adenocarcinoma was 71% (22 /31),which was higher than both that in solid predominant and mucinous carcinoma (6.7%,20% respectively).According to statistic analysis,EGFR mutations were without correlation with the patient’s gender,age,location,gross type,smoking status and lymph node metastasis(P >0.05).EGFR mutation was more frequent in well-differentiated cancer,mainly in acinar carcinoma,while poorly differentiated adenocarcinoma and mucous adenocarcinoma were lower.Conclu-sion:There was a difference of EGFR mutation in primary lung adenocarcinoma between Uighur and Han in Xinjiang,perhaps reflecting ethnic genetic variation,which is worth further analyzing.EGFR mutation was commonly detected in well or middle differentiated adenocarcinoma,mainly in acinar carcinoma.