云南省肺癌患者表皮生长因子受体基因突变的临床特征分析

Analysis of EGFR mutation and clinical features of lung cancer in Yunnan

目的:探讨云南省肺癌患者表皮生长因子受体(EGFR)突变特征,为云南省肺癌的临床个体化靶向治疗提供依据。方法:收集云南省肿瘤医院2014年1月至2019年8月2967例行EGFR基因检测肺癌患者的人口学资料和临床资料,分析EGFR突变情况。结果:2967例肺癌患者的EGFR突变率为46.2%(1370/2967)。单因素分析显示,女性突变率高于男性(P<0.001);随年龄增长,突变率呈下降趋势(P=0.030);少数民族突变率高于汉族(P=0.012);无吸烟史患者突变率高于吸烟史患者(P<0.001);无饮酒史患者突变率高于饮酒史患者(P<0.001);无肺癌家族史患者突变率高于肺癌家族史患者(P=0.008);腺癌突变率高于鳞癌、腺鳞癌、小细胞癌及其他病理类型(P<0.001);早期患者突变率高于晚期患者(P<0.001);组织标本检测突变率高于细胞学检测和外周血检测(P<0.001);宣威地区突变率低于非宣威地区患者(P<0.001)。logistic多因素分析显示,仅性别(P<0.001)、年龄(P=0.036)、吸烟史(P<0.001)、病理类型(P<0.001)、标本类型(P<0.001)和是否宣威地区(P<0.001)是EGFR基因突变的独立影响因素,女性、不吸烟、腺癌、非宣威地区、病理组织标本、年轻肺癌患者更易发生EGFR基因突变。1370例EGFR突变患者的主要突变类型为19-Del和L858R,占38.2%。宣威地区G719X、G719X+L861Q、G719X+S768I和S768I的突变率高于非宣威地区(P<0.05);而19-Del、L858R、20-ins的突变率低于非宣威地区(P<0.05)。少数民族19-Del的突变率高于汉族(P<0.001);汉族G719X+L861Q的复合突变率高于少数民族(P=0.005)。结论:云南省肺癌患者EGFR突变率与亚洲和中国整体人群突变率相近,女性、不吸烟、腺癌、年轻患者EGFR突变率较高,宣威地区患者突变率较低。最常见的EGFR突变类型为19-Del和L858R,宣威地区以L858R突变为主,非宣威地区以19-Del为主。云南省肺癌患者稀有突变(G719X、G719X+L861Q、G719X+S768I、S768I)的突变率较高,宣威地区稀有突变率高于非宣威地区,汉族G719X+L861Q的复合突变率高于少数民族。

Objective To analyze the EGFR mutation profile of lung cancer patients in Yunnan,and to provide evidence for clinical personalized treatment.Methods Demographic and clinical data of 2967 lung cancer patients undergoing EGFR identification were collected and analyzed from January 2014 to August 2019 in Yunnan Cancer Hospital.Results The proportion of EGFR mutation in 2967 patients with lung cancer was 46.2%.Univariate analysis showed that the proportion of EGFR mutation in women was higher than that in men(P<0.001)and displayed a downward trend with age(P=0.03).The mutation rate of ethnic minorities was higher than Han(P=0.012).Mutation rate in patients without smoking history was higher than those with smoking history(P<0.001),and patients without drinking history was higher than patients with drinking history(P<0.001).Mutation rate in patients without family history of lung cancer was higher than those with family history(P=0.008).The mutation rate of adenocarcinoma was higher than other pathological types(P<0.001).The mutation rate was different among stages,and it was higher in early patients than that in advanced patients(P<0.001).The mutation rate of tissue specimens was higher than those of cytology and peripheral blood samples(P<0.001).The mutation rate of Xuanwei area was lower than that in non-Xuanwei area(P<0.001).Multivariate analysis showed that gender(P<0.001),age(P=0.036),smoking history(P<0.001),pathological type(P<0.001),specimen type(P<0.001),and whether or not Xuanwei area(P<0.001)were the independent factors of EGFR mutation.The EGFR mutation was more common in female,non-smokers,adenocarcinoma,non-Xuanwei area,tissue specimen and young lung cancer patients.The mutation types of EGFR in 1370 cases mainly included 19-Del and L858R.The predominant mutation of EGFR in Xuanwei area was L858R,while in non-Xuanwei area was 19-Del.The mutation rates of G719X,G719X+L861Q,G719X+S768I,and S768I in Xuanwei were higher while the mutation rates of 19-Del,L858R,and 20-ins were lower than non-Xuanwei area(P<0.05).The 19-Del mutation rate of ethnic minorities is higher than that of Han(P<0.001).The combined mutation rate of G719X,L861Q in Han was higher than that of ethnic minorities(P=0.005).Conclusions The EGFR mutation rate in lung cancer patients in Yunnan is similar to Asian and Chinese,and higher in female,non-smokers,adenocarcinomas,young and non-Xuanwei area patients.The most common types of EGFR mutation in Yunnan are 19-Del and L858R.The predominant mutation of EGFR in Xuanwei area is L858R,while in non-Xuanwei area is 19-Del.The mutation rates of G719X,G719X+L861Q,G719X+S768I and S768I are higher in Xuanwei patients than those in non-Xuanwei patients.The combined mutation rate of G719X and L861Q in Han nationality is higher than that of ethnic minorities.