摘要
目的探讨肺癌患者中表皮生长因子受体（EGFR）基因突变和扩增与临床病理的关系。方法应用聚合酶链反应（PCR）-DNA测序和荧光原位杂交（FISH）检测肺癌EGFR基因突变和扩增的情况，并结合临床病理资料进行分析。结果在DNA测序检测的454例肺癌中，总突变率48.2％ （219/454）。女性患者突变率59.6％ （118/198）明显高于男性39.5％ （101/256），两者差异有统计学意义（P＜0.001）。非吸烟者突变率52.7％（ 147/279）高于吸烟者41.1％ （72/175），两者差异有统计学意义（P=0.017）。腺癌突变率56.8％ （193/340）高于非腺癌者22.8％ （26/114），两者之间差异有统计学意义（P＜0.05）。腺癌各亚型之间突变率差异有统计学意义（P=0.001）。在FISH检测的134例肺癌中，基因扩增阳性率22.4％ （30/134），其在年龄、性别、组织学类型和腺癌亚型分型中无统计学意义（P＞0.05）。EGFR基因扩增与基因突变之间具有显著相关性（P=0.0005），但两者一致性较差（κ=0.275）。结论EGFR基因在女性、非吸烟者和腺癌患者中突变率高，且腺癌各亚型之间突变率有明显差异；EGFR基因扩增与年龄、性别、组织学类型和腺癌亚型分型无明显相关。DNA测序与FISH两种检测方法之间具有显著相关性，但两者一致性较差。
Objective To investigate the clinicopathological features of patients with lung cancers associated with epidermal growth factor receptor （EGFR） gene amplification and/or mutations. Methods Mutations and amplification status of EGFR gene were detected by PCR-DNA sequencing and FISH,respectively, followed by subsequent clinicopathological correlative studies. Results Among 454 patients,the overall mutation rate of EGFR was 48.2% （219/454）. The EGFR mutation rate in females was significantly higher than that of males, 59.6% （ 118/198 ） vs. 39.5% （ 101/256 ）, P 〈 0.001. The mutation rate of EGFR gene of non-smokers was higher than that of smokers, 52.7% （147/279） vs.41.4% （72/175）, P = 0.017. The mutation rate in patients with adenocarcinoma was higher than that in patients with other cancer types, 56.8% （ 193/340 ） vs. 22.8% （ 26/114 ）, P 〈 0.05. Moreover, a significant difference of mutation rates among different subtypes of adenocarcinomas was found （ P = 0.001 ）.Among 134 patients with available FISH analysis, no statistical significance of EGFR gene amplification was found in age, gender, histopathological types and subtypes of adenocarcinomas （ P 〉 0.05 ）. There was a significant correlation between EGFR mutation and its gene amplification （P = 0.0005 ）, although with poor consistency （P = 0.275 ）. Conclusions EGFR gene mutations occur more frequently in females, non-smokers and patients with adenocarcinoma subtype. A significant variation of the mutation types exits among the subtypes of adenocarcinoma. The presence of EGFR amplification appears not related to age, gender,histopathological types of lung cancer and subtypes of adenocarcinoma. There is a significant correlation between EGFR mutations and its gene amplification （ P = 0.0005 ）, although with poor consistency.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2011年第10期675-678,共4页
Chinese Journal of Pathology
关键词
癌
非小细胞肺
受体
表皮生长因子
突变
Carcinoma,non-small-cell lung
Receptor,epidermal growth factor
Mutation
