影像学表现为磨玻璃病灶的肺腺癌患者术后行EGFR、ALK、KRAS及ROS1基因检测的价值

The value of EGFR,ALK,KRAS and ROS1 gene detection in patients with lung adenocarcinoma presenting ground glass opacity

目的探究影像学表现为磨玻璃病灶(GGO)的肺腺癌患者术后行表皮生长因子受体(EGFR)、间变性淋巴瘤激酶(ALK)、Kirsten鼠肉瘤基因(KRAS)和C-ros原癌基因1-受体酪氨酸激酶(ROS1)基因检测的价值。方法回顾性收集中山大学附属第一医院胸外科2015年1月-2018年4月期间影像学表现为GGO的74例术后均由病理学证实为肺腺癌的患者。收集患者手术后肿瘤组织标本的病理切片,通过等位基因特异性扩增法(ARMS)进行EGFR、ALK、KRAS、ROS1基因检测。将有任一基因突变阳性的患者定义为基因突变阳性组,无任何基因突变的患者定义为基因突变阴性组,统计分析两组间相关临床特征的差异并探讨其价值。结果74例患者中基因突变阳性组共52例,其中EGFR突变阳性48例(64.86%),KRAS突变5例(6.33%),ROS1融合3例(3.80%),ALK融合1例(1.27%);基因突变阴性组共22例(27.85%)。基因突变阳性组患者的浸润性病变(微小浸润癌+浸润癌)所占的比例较阴性组更高(P<0.05),病灶的倍增时间较阴性组短(P<0.05),两组间在年龄、性别、吸烟史、肺癌家族史、分期、GGO类型、病灶最大径、实性成分最大径及实性成分所占比例无明显差异。对主要突变基因EGFR行亚组分析提示EGFR突变阳性患者的病灶最大径较大(P<0.05),浸润性病变的EGFR突变率更高(P<0.05)。结论影像学表现为磨玻璃病灶的肺腺癌患者术后行EGFR、ALK、KRAS及ROS1基因检测阳性与其恶性程度相关,术后行基因检测对复查随访具有一定的指导意义。

Objective To investigate the value of epidermal growth factor receptor(EGFR),anaplastic lymphoma kinase(ALK),Kirsten rat sarcoma(KRAS)and C-ros oncogene 1-receptor tyrosine kinase(ROS1)gene detection in patients with lung adenocarcinoma presenting ground glass opacity(GGO).Methods 74 patients who confirmed as lung adenocarcinoma by pathology after surgery and presented with GGO in the Department of Thoracic Surgery of the First Affiliated Hospital of Sun Yat-sen University from January 2015 to April 2018 were retrospectively selected.The tumor tissues were collected for EGFR,ALK,KRAS and ROS1 gene detection by amplification refractory mutation system(ARMS).Patients with any positive gene mutation were defined as the positive gene mutation group,and patients without any gene mutation were defined as the negative gene mutation group.The differences of clinical characteristics between the two groups were statistically analyzed to explore the value.Results Among the 74 patients,52 were in the positive gene mutation group,including 48 patients with EGFR mutation positive(64.86%),5 patients with KRAS mutation positive(6.33%),3 patients with ROS1 fusion(3.80%),1 patient with ALK fusion(1.27%),and 22 were in the negative gene mutation group(27.85%).The proportion of invasive lesions(minimally invasive adenocarcinoma and invasive adenocarcinoma)in the gene mutation positive group was higher than that in the negative group(P<0.05),and the doubling time of the lesion in the gene mutation positive group was shorter than that in the negative group(P<0.05).There was no significant difference in age,gender,smoking history,family history of lung cancer,stage,GGO type,maximum diameter of lesion,maximum diameter of solid component and consolidation tumor ratio between the two groups.The subgroup analysis indicated that EGFR mutation patients had larger diameter than patients without EGFR mutation(P<0.05)and higher proportion of invasive lesions(P<0.05).Conclusion The positive detection of EGFR,ALK,KRAS and ROS1 genes in patients with lung adenocarcinoma presented as GGO after operation was related to the degree of malignancy.Postoperative gene detection has a guiding significance for the follow-up after surgery.