云南宣威地区非小细胞肺癌表皮生长因子受体及KRAS基因突变检测分析  

Mutation status of epidermal growth factor receptor and KRAS gene in non-small cell lung cancers at Xuanwei regions of Yunnan Province

作　　者：杨长绍[1] 潘鑫艳[1] 冯强[1] 王媛媛[1] 徐文漭[1] 蒋婷[1] 王力[1] 杨举伦[1] 王丽[1] 

机构地区：[1]成都军区昆明总医院病理科,650032

出　　处：《中华病理学杂志》2016年第4期226-230,共5页Chinese Journal of Pathology

基　　金：National Natural Science Foundation of China （81201759）;the Applied ＆ Basic Research Funds of Yunnan Province, China （2012FB210）

摘　　要：目的研究云南宣威地区非小细胞肺癌患者中表皮生长因子受体（EGFR）及KRAS基因突变情况，分析EGFR及KRAS基因突变与患者临床病理特征的相关性。方法选取云南宣威地区非小细胞肺癌手术标本63例，运用直接测序法及突变扩增阻滞系统（ARMS）-Taqman探针法检测石蜡组织标本中EGFR基因外显子18、19、20、21及KRAS基因外显子2第12、13位密码子突变状态，并分析基因突变与临床病理特征的相关性。结果EGFR及KRAS基因在云南宣威地区非小细胞肺癌的突变率分别为55．6％（35／63）和6．3％（4／63）。其中EGFR基因外显子18G719X突变占14．3％（5／35），外显子19缺失突变占14．3％（5／35），外显子20 s768I、T790M突变占20．0％（7／35），外显子21L858R突变占31．4％（11／35），且有6例标本（17．1％，6／35）同时存在外显子18G719X及外显子20 S768I双突变，1例标本（2．9％，1／35）同时存在外显子20T790M及外显子21L858R双突变；KRAS基因突变阳性标本第12位密码子的突变占3／4，第13位密码子的突变占1／4；无同时存在EGFR和KRAS基因突变患者。经统计学分析，EGFR基因突变与组织学类型相关（P〈0．05），而与患者性别、年龄、吸烟情况及有无淋巴结转移无相关性（P〉0．05）；KRAS基因突变则与患者临床病理特征无相关性。结论云南宣威地区非小细胞肺癌EGFR基因外显子18G719X及外显子20$768I突变率相对较高，且EGFR基因突变与组织学类型相关，而与患者性别、年龄、吸烟情况及有无淋巴结转移无相关性；KRAS基因突变与非小细胞肺癌患者临床病理特点无相关性。Objective To investigate the mutation status of epidermal growth factor receptor （EGFR） and KRAS gene in patients with non-small cell lung cancer （NSCLC） in Xuanwei, Yunnan and to correlate the mutation status with clinieopathologic features. Methods Mutation status of exons 18, 19, 20 and 21 of EGFR, and eodons 12, 13 of KRAS in 63 cases of NSCLC were analyzed by gene sequencing and ARMS-Taqman probe method. Correlation with patients＇ clinicopathological characteristics was performed. Results EGFR and KRAS mutations were present in 55.6% （35/63） and 6. 3% （4/63）, respectively. EGFR gene mutations were present, including exon 18 GT19X in 14. 3% （5/35） , exon 19 in 14. 3% （5/35）, exon 20 $768I and T790M in 20.0% （7/35）, exon 21 L858R in 31.4% （11/35）, exon 18 G719X and exon 20 5768I double mutation in 17.1% （6/35） , and exon 20 T790M and exon 21 L858R double mutation in 2. 9% （1/35）. KRAS mutations were seen in codon 12 in 3 of 4 cases, and codon 13 in 1 of 4 cases. EGFR mutations were mutually exclusive with KRAS mutations. According to statistic analysis, EGFR mutations were associated with the histological types of NSCLC （ P 〈 0. 05 ） , but without correlation with patient＇s gender, age, smoking status and lymph node metastasis（P 〉 0. 05）. KRAS mutations in NSCLC had no correlation with the clinical pathologic characteristics of the patients. Conclusions A higher frequency of EGFR exon 18 GT19X and 20 exon S768I mutations are found in the patients in Xuanwei, Yunnan. EGFR mutations are associated with histologic types of NSCLC, but without correlationwith patient＇s gender, age, smoking status and lymph node metastasis. KRAS mutation in NSCLC has no correlation with the clinicopathologic characteristics of the patients.

关 键 词：癌 非小细胞肺 基因 DNA突变分析 受体 表皮生长因子 

分 类 号：R734.2[医药卫生—肿瘤]