肺腺癌EGFR基因19、21外显子突变与临床病理特征及预后的关系

目的分析肺腺癌表皮生长因子受体(EGFR)基因19、21外显子突变与临床病理特征及预后的关系。 方法回顾性分析2017年1月至2018年6月100例经病理证实为肺腺癌的患者临床资料与标本，采用PCR-ARMS技术检测标本EGFR基因19、21外显子突变情况，分析EGFR基因突变与临床病理特征及预后的关系。 结果100例肺腺癌标本共检测出47例EGFR突变，突变率为47.00%，其中第19号外显子突变20例(42.55%)，包括6种形式的突变，以核苷酸框架缺失为主，最常见的类型为核苷酸从2234-2248位缺失15bp的delE746-A750突变，共11例，占55.00%；第21号外显子突变27例(57.45%)，包括5种形式的突变，均是碱基置换突变，最常见的类型为2573位点的T被G取代的L858R，共17例，占62.96%；女性、无吸烟史、临床分期Ⅰ期患者EGFR19与EGFR21突变率高于其他患者(P<0.05)；Logisitic回归分析显示性别、吸烟史、肿瘤直径、临床病理分期是影响EGFR19、EGFR21突变的因素。100例肺腺癌患者全部获得有效随访，EGFR19突变患者2年无进展生存率、总生存率分别为80.00%、85.00%，未突变患者分别为65.00%、73.75%；EGFR21突变患者2年无进展生存率、总生存率分别为81.48%、92.59%，未突变患者分别为63.01%、69.86%；女性、临床分期较早、无淋巴结转移、发生EGFR21突变患者2年生存率低于其他患者(P<0.05)；Logisitic回归分析显示男性、临床分期较晚、有淋巴结转移、EGFR21未突变是肺腺癌患者不良预后的独立危险因素。 结论肺腺癌EGFR基因19、21外显子突变与性别、吸烟史、肿瘤直径、临床分期有关，同时也是预测预后的有效方法。

Relationship between EGFR gene 19 th and 21 th exons mutation and clinicopathological features,prognosis of lung adenocarcinoma

ObjectiveTo explore the relationship between epidermal growth factor receptor (EGFR) gene19 th and 21 th exons mutation and clinicopathological features, prognosis of lung adenocarcinoma. MethodsThe clinical data and specimens of 100 patients who were pathologically confirmed with lung adenocarcinoma from January 2017 to June 2018 were retrospectively analyzed. PCR-ARMS technique was applied to detect the mutation of EGFR gene 19 th and 21 th exons. The relationship between EGFR gene mutation and clinicopathological features, prognosis was analyzed. ResultsAmong the 100 lung adenocarcinoma specimens, there were 47 cases with EGFR mutation, with mutation rate of 47.00%, Among them, there were 20 cases (42.55%) with 19 th exon mutation, including 6 types of mutations, which were mainly on nucleotide framework deletions. And the most common type was delE746-A750 mutation with 15 bp deletion within nucleotide 2234-2248 (11 cases, 55.00%). And there were 27 cases (57.45%) with 21 th exon mutation, including 5 types of mutations, all of which were base substitution mutations. The most common type was L858R where T was replaced by G at 2573 locus (17 cases, 62.96%). The mutation rates of EGFR19 and EGFR21 in patients with female gender, without smoking history, and with clinical staging at stage I were higher than those in the other patients (P<0.05). Logisitic regression analysis showed that gender, smoking history, tumor diameter and clinical pathological stage were related with mutation of EGFR19 and EGFR21. All the 100 patients with lung adenocarcinoma were followed up effectively. The 2-year progression-free survival (PFS) rate and overall survival (OS) rate in EGFR19 mutation patients and non-mutation patients were (80.00%, 85.00%) and (65.00%, 73.75%), respectively. The 2-year PFS rate and OS rate in EGFR21 mutation patients and non-mutation patients were (81.48%, 92.59%) and (63.01%, 69.86%), respectively. The 2-year survival rate in patients with female gender, early clinical staging, without lymph node metastasis, and with EGFR21 mutation was lower than that in the other patients (P<0.05). Logisitic regression analysis showed that male gender, late clinical staging, lymph node metastasis and EGFR21 non-mutation were independent risk factors of poor prognosis of lung adenocarcinoma patients. ConclusionThe mutations of EGFR gene 19 th and 21 th exons in lung adenocarcinoma are related to gender, smoking history, tumor diameter and clinical stage, which are are also effective methods for predicting prognosis.