早期非小细胞肺癌表皮生长因子受体基因突变分布

目的探索早期非小细胞肺癌（NSCLC）表皮生长因子受体（EGFR）基因突变状况。方法以上海市胸科医院2003年6月1日--2011年6月1日期间早期NSCLC患者为研究对象，收集NSCLC根治术后原发灶标本，采用PCR扩增和直接测序方法检测EGFR突变；EGFR敏感突变和非敏感突变患者之间临床病理特征比较采用x。检验。采用Logistic回归法分析EGFR敏感突变与临床病理特征的相关性。结果共入组165例NSCLC患者，其中EGFR野生型93例（56．36％，93／165），EGFR突变72例（43．64％，72／165），敏感突变56例（19del33例和21L858R23例），占总人群33．94％（56／165），占所有突变77．78％（56／72）；单因素分析发现，腺癌、不吸烟、原发灶直径〈5cm和EGFR荧光原位杂交（FISH）扩增阳性患者突变概率较高；Logistic回归分析显示，病理类型及原发灶大小是早期NSCLC患者EGFR敏感突变的独立预测因子，腺癌、肿瘤直径〈5cm患者的EGFR突变概率分别是非腺癌、肿块直径≥5cm患者的4．435倍（95％CI1．209～16．273，P：0．025）、4．343倍（95％CI1．393～13．540，P=0．011）。结论在早期NSCLC患者中，腺癌、不吸烟、原发灶直径〈5em和EGFRFISH扩增阳性患者的敏感突变概率高；病理类型及肿瘤大小是早期NSCLC患者EGFR敏感突变的独立预测因子。

Distribution of EGFR gene mutations of early stage non-small cell lung cancer

Objective To explore the distribution of EGFR mutations in the early stage of non-smaU cell lung cancer （NSCLC）. Methods Specimens from primary tumors of patients with NSCLC treated by radical surgeries in Shanghai Chest Hospital from June 1, 2003 to June 1, 2011 were collected. The EGFR mutations were detected by the PCR amplification and direct sequencing methods. The clinical pathological features between patients with EFGR sensitive mutations and patients with non EGFR sensitive mutations were compared by the chi-squared test. The correlation between EGFR sensitive mutations and clinical pathological features was analyzed by the logistic regression method. Results Among 165 patients with NSCLC, 93 cases were wild- type EGFR （56.36%, 93/165） ; 72 cases were EGFR mutations （43.64%, 72/165） ; and 56 cases （33.94%, 56/ 165） were sensitive mutations （33 cases of 19del and 23 cases of 21L858R point mutation）. The sensitive mutations accounted for 77.78% of all mutations （56/72）. The single factor analysis showed that EGFR sensitive mutations were more frequently found in patients with adenocarcinoma, no smoking, positive EGFR fluorescent zh s/tu hybridization （FISH） amplification, and the diameter of primary tumor less than 5 cm. Logistic regression analysis showed that the pathological type and size of primary tumor were independent predictionfactors of sensitive mutations for padents with early stage NSCLC. The probability of mutadons of padents with adetlocarcinoma and lesion diameter less than 5cm was 4. 435 times （950/0 CI 1. 209 -16. 273, P=0. 025） and 4. 343 times （95% CI 1. 393 -13. 540, P=0. 011） than those of patients with non-adenocarcinoma or lesion diameter greater than or equal to 5 cm, respectively. Conclusion Among the patients with early stage NSCLC, the probability of sensitive mutations of those who with adenocarcinoma, no smoking, primary lesion diameter less than 5 cm, and positive EGFR FISH amplification is higher. The pathological type and size of prinlary tumor are independent prediction factors of sensitive mutations for patients with early stage NSCLC.