[Relationship between EGFR, ALK Gene Mutation and Imaging and Pathological Features in Invasive Lung Adenocarcinoma]

At present, the research progress of targeted therapy for epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) gene mutations in lung adenocarcinoma is very rapid, which brings new hope for the treatment of advanced lung adenocarcinoma patients. However, the specific imaging and pathological features of EGFR and ALK gene mutations in adenocarcinoma are still controversial. This study will further explore the correlation between EGFR, ALK gene mutations and imaging and pathological features in invasive lung adenocarcinoma.A total of 525 patients with lung adenocarcinoma who underwent surgery in our center from January 2018 to December 2019 were included. According to the results of postoperative gene detection, the patients were divided into EGFR gene mutation group, ALK gene mutation group and wild group, and the EGFR gene mutation group was divided into exon 19 and exon 21 subtypes. The pathological features of the mutation group and wild group, such as histological subtype, lymph node metastasis, visceral pleural invasion (VPI) and imaging features such as tumor diameter, consolidation tumor ratio (CTR), lobulation sign, spiculation sign, pleural retraction sign, air bronchus sign and vacuole sign were analyzed by univariate analysis and multivariate Logistic regression analysis to explore whether the gene mutation group had specific manifestations.EGFR gene mutation group was common in women (OR=2.041, P=0.001), with more pleural traction sign (OR=1.506, P=0.042), and had little correlation with lymph node metastasis and VPI (P0.05). Among them, exon 21 subtype was more common in older (OR=1.022, P=0.036), women (OR=2.010, P=0.007), and was associated with larger tumor diameter (OR=1.360, P=0.039) and pleural traction sign (OR=1.754, P=0.029). Exon 19 subtype was common in women (OR=2.230, P=0.009), with a high proportion of solid components (OR=1.589, P=0.047) and more lobulation sign (OR=2.762, P=0.026). ALK gene mutations were likely to occur in younger patients (OR=2.950, P=0.045), with somking history (OR=1.070, P=0.002), and there were more micropapillary components (OR=4.184, P=0.019) and VPI (OR=2.986, P=0.034) in pathology.The EGFR and ALK genes mutated adenocarcinomas have specific imaging and clinicopathological features, and the mutations in exon 19 or exon 21 subtype have different imaging features, which is of great significance in guiding the clinical diagnosis and treatment of pulmonary nodules.【中文题目：浸润性肺腺癌EGFR、ALK基因突变状态 与影像学、病理学特征的相关性】 【中文摘要：背景与目的 当前针对肺腺癌表皮生长因子受体（epidermal growth factor receptor, EGFR）与间变性淋巴瘤激酶（anaplastic lymphoma kinase, ALK）基因突变位点的靶向治疗研究进展十分迅速，为晚期肺腺癌患者的治疗带来新的希望，然而目前EGFR、ALK基因突变在腺癌患者中所具有的特异性影像学与病理学特征仍存在较多争议，本研究进一步探索浸润性肺腺癌EGFR、ALK基因突变与影像学、病理学特征的相关性。方法 纳入2018年1月-2019年12月在我们中心接受手术的525例肺腺癌患者。根据术后基因检测的结果将患者分为EGFR基因、ALK基因突变组与野生组，并将EGFR基因突变组分层为外显子19、外显子21突变亚型，将突变组与野生组的病理学特征如组织学亚型、淋巴结转移、脏层胸膜侵犯（visceral pleural invision, VPI）等，影像学特征如肿瘤最大直径、实性成分占比（consolidation tumor ratio, CTR）、分叶征、毛刺征、胸膜牵拉征、空气支气管征、空泡征等进行单因素分析及多因素逻辑回归分析，探讨基因突变组是否具有特异性表现。结果 EGFR基因突变组常见于女性（OR=2.041, P=0.001），存在更多胸膜牵拉征征象（OR=1.506, P=0.042），病理学上与淋巴结转移及VPI相关性较小（P0.05）。其中外显子21突变型腺癌多见于年龄相对较大者（OR=1.022, P=0.036）及女性（OR=2.010, P=0.007），常伴有较大肿瘤直径（OR=1.360, P=0.039）及胸膜牵拉征（OR=1.754, P=0.029）。外显子19突变型腺癌常见于女性（OR=2.230, P=0.009）、肿瘤实性成分比例较高（OR=1.589, P=0.047）、存在更多分叶征（OR=2.762, P=0.026）。ALK基因突变易发生于有吸烟史（OR=2.950, P=0.045）及较年轻患者（OR=1.070, P=0.002），病理学上存在更多微乳头型成分（OR=4.184, P=0.019）及VPI（OR=2.986, P=0.034）。结论 EGFR、ALK基因突变型腺癌具有特异的影像学及临床病理学特征，且EGFR外显子19或21突变具有不同的影像学特征，对制定肺结节临床处理策略具有重要意义。 】 【中文关键词：肺肿瘤；表皮生长因子受体；间变性淋巴瘤激酶；病理特征；放射学】.