174例早期肺腺癌患者EGFR基因突变检测和临床病理特征分析

目的　探讨早期肺腺癌组织中表皮生长因子受体（EGFR）基因突变和临床病理特征的关系。方法　选择2019年1月至2020年12月郑州人民医院收治的54例原位肺腺癌患者和120例微浸润肺腺癌患者作为研究对象，其中男性54例，女性120例，年龄25～79岁。利用扩增阻滞突变系统-聚合酶链反应（amplification refractory mutation system PCR，ARMS-PCR）方法检测以上组织中EGFR基因18、19、20、21外显子的突变情况，并对其与临床病理特征的相关性进行了回顾性研究。采用χ²检验。结果　受检的174例标本中，EGFR基因的总突变率为58.6%（102/174），18、19、20、21外显子的突变分别占4.9%（5/102）、27.5%（28/102）、3.0%（3/102）、64.7%（66/102）。EGFR基因突变率的特点为：女性患者（64.2%，77/120）高于男性患者（46.3%，25/54）（P=0.027）；无吸烟史患者（64.7%，77/119）高于有吸烟史患者（45.5%，25/55）（P=0.017）；微浸润肺腺癌患者（65.0%，78/120）高于原位肺腺癌患者（44.4%，24/54）（P=0.011）；纯磨玻璃病灶（59.8%，67/112）和混杂磨玻璃病灶（63.5%，33/52）高于实性病灶（20.0%，2/10）（P=0.035）；肿物长径≥1 cm的（76.9%，60/78）明显高于肿物长径<1 cm的（43.8%，42/96）（P=0.001）；与年龄无明显相关性（P=0.804）。结论　在早期肺腺癌中，EGFR基因突变常见于女性、无吸烟史、微浸润肺腺癌、磨玻璃病灶、肿物长径≥1 cm的患者，以21号外显子L858R突变为主。EGFR基因突变在早期肺腺癌的发生发展过程中扮演重要角色。

EGFR gene mutation and clinicopathological features in 174 patients with early lung adenocarcinoma

Objective　To investigate the relationships between epidermal growth factor receptor (EGFR) gene mutation and clinicopathological features in early lung adenocarcinoma. Methods　A total of 54 patients with in situ lung adenocarcinoma and 120 patients with minimally invasive adenocarcinoma treated in Zhengzhou People's Hospital from January 2019 to December 2020 were selected as the research objects, including 54 males and 120 females, aged 25-79 years. The mutations of exon 18, 19, 20, and 21 of EGFR gene in the above tissues were detected by amplification refractory mutation system PCR (AMRS-PCR), and their relationships with clinicopathological characteristics were retrospectively studied. χ² test was used. Results　The total mutation rate of EGFR gene in the 174 samples was 58.6% (102/174), and mutations of exon 18, 19, 20, and 21 accounted for 4.9% (5/102), 27.5% (28/102), 3.0% (3/102), and 64.7% (66/102), respectively. The mutation rate of EGFR gene in female patients (64.2%, 77/120) was higher than that in male patients (46.3%, 25/54) (P=0.027), it was higher in patients without smoking history (64.7%, 77/119) than that in patients with smoking history (45.5%, 25/55) (P=0.017) , it was higher in patients with minimally invasive adenocarcinoma (65.0%, 78/120) than that in patients with in situ lung adenocarcinoma (44.4%, 24/54) (P=0.011), it was higher in patients with pure ground-glass lesions (59.8%, 67/112) and mixed ground-glass lesions (63.5%, 33/52) than that in patients with solid lesions (20.0%, 2/10) (P=0.035) , it was higher in patients with tumor diameter ≥1 cm (76.9%, 60/78) than that in patients with tumor diameter <1 cm (43.8%, 42/96) (P=0.001), but there was no significant correlation with age (P=0.804). Conclusions　In early lung adenocarcinoma, EGFR gene mutation is common in female patients, patients without smoking history, and patients with minimally invasive adenocarcinoma, pure ground-glass lesions, and tumor diameter ≥1 cm, and the mutation is mainly in exon 21 L858R. EGFR mutation plays an important role in the development and progression of early lung adenocarcinoma.