非小细胞肺癌患者EGFR基因突变特征分析

Analysis of EGFR mutation and clinical characteristics of non-small cell lung cancer patients

目的探讨非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)突变特征及不同突变类型的分布特征,以期为本地区NSCLC的临床个体化靶向治疗提供依据。方法选取2014-01-01-2019-08-31云南省肿瘤医院EGFR基因检测的NSCLC患者3007例为研究对象。收集患者的性别、年龄、民族、籍贯、病理类型和EGFR基因检测结果等临床资料,采用率或百分比进行计数资料描述,采用χ^(2)检验和Fisher确切概率法进行统计分析。结果所有NSCLC患者EGFR突变率为46.49%(1398/3007)。突变率女性(56.66%)高于男性(36.15%),差异有统计学意义,χ^(2)=127.14,P<0.001。随年龄的增长,EGFR突变率呈下降趋势,χ^(2)=10.44,P=0.005。突变率少数民族(52.59%)高于汉族(45.64%),差异有统计学意义,χ^(2)=6.25,P=0.012。腺癌突变率47.46%,高于其他病理类型,差异有统计学意义,χ^(2)=52.60,P<0.001。突变率宣威地区(41.26%)低于非宣威地区(48.74%),差异有统计学意义,χ^(2)=14.22,P<0.001。1398例EGFR突变人群中,单点突变率42.43%(1276/3007),复合突变率4.06%(122/3007);常见突变率38.61%(1161/3007),稀有突变率7.88%(237/3007)。突变类型以19-Del,L858R为主,突变率前5位的突变类型依次为19-Del(21,08%)、L858R(17.53%),G719X+L861Q(2.93%),G719X(1.76%),G719X+S768I(0.83%)。男性和女性各突变类型占比差异不大,宣威地区稀有突变占比明显高于非宣威地区,汉族稀有突变占比高于少数民族。结论本研究NSCLC患者EGFR突变率与亚洲及中国人群相近,其在女性、腺癌、少数民族和年轻患者中突变率较高,而宣威地区突变率较低,稀有突变和复合突变率高于其他地区。

Objective To count the EGFR mutation rate of NSCLC patients in the hospital, and analyze the characteristics of distribution in different mutation types, in order to provide a basis for clinical individualized targeted therapy of NSCLC in Yunnan.Methods A total of 3 007 patients with NSCLC who underwent EGFR gene testing in Yunnan Cancer Hospital from January 01,2014 to August 31,2019 were selected as the research object, and the clinical data such as gender, age, ethnicity, origin, pathological type, the test results of EGFR were collected.The χ2 test and Fisher’s exact probability method were used for statistical analysis.Results The rate of EGFR mutation was 46.49%(1 398/3 007) in NSCLC patients.The rate of EGFR mutation in females(56.66%) was higher than that in males(36.15%),with statistical significance, χ2=127.14,P<0.001.There showed a downward trend with age growing, χ2=10.44,P=0.005.The mutation rate of ethnic minorities(52.59%) was higher than Hans(45.64%),χ2=6.25,P=0.012.Rate of mutation in adenocarcinoma(47.46%) was higher than other pathological types, χ2=52.60,P<0.001.Mutation rate in Xuanwei area(41.26%) was lower than that in non-Xuanwei area(48.74%),χ2=14.22,P<0.001.Among the 1 398 EGFR mutants, the single point mutation rate was 42.43%(1 276/3 007),and the composite mutation rate was 4.06%(122/3 007).The common mutation rate was 38.61%(1 161/3 007),and the rare mutation rate was 7.88%(237/3 007).The predominant mutation types were 19-Del and L858 R.The top 5 mutation types were 19-Del(21.08%),L858 R(17.53%),G719 X+L861 Q(2.93%),G719 X(1.76%),G719 X+S768 I(0.83%).The proportion of mutations in males and females was not much different.The proportion of rare mutations in Xuanwei area was significantly higher than that in non-Xuanwei area,and the proportion of rare mutations in Hans was higher than ethnic minorities.Conclusions The rate of EGFR mutation of nonsmall cell lung cancer patients in Yunnan Cancer Hospital was similar to that of Asian and Chinese.The mutation rate was higher among women,adenocarcinoma,ethnic minorities and young patients,but lower in Xuanwei region.The rate of rare EGFR mutations and compound mutations in Yunnan is higher than other regions.