摘要目的 探讨采用支气管冲洗液进行表皮生长因子受体(EGFR)基因突变检测对经支气管镜活检难以明确诊断的肺癌患者的临床应用价值.方法 对怀疑为肿瘤的肺部病灶进行支气管镜活检,经快速现场细胞学评估未能明确恶性肿瘤患者,收集支气管冲洗液及组织学标本.应用blocker PCR法分别检测其上清液和沉淀中EGFR基因突变状况,并与同一患者组织标本EGFR基因突变情况进行对比.结果 收集2016年10月至2017年6月期间复旦大学附属中山医院85例患者,其中男性46例,女性39例,平均年龄为61岁( 30～87岁).其中31例诊断为良性病变,54例最终诊断为原发性支气管肺癌.在54例肺癌患者中,有31例通过支气管镜活检明确诊断,支气管冲洗液标本的EGFR检测结果与组织标本一致率为100. 0%.未能通过支气管镜活检明确诊断的23例患者最终通过手术、肺穿刺等方式确诊,经组织检测或临床疗效确认15例存在EGFR突变,支气管冲洗液检测出其中的11例突变(11/15).总体85例配对比较,支气管冲洗液与最终组织检测的一致率为95. 3%(81/85).结论 对支气管镜检查中现场快速评估为阴性的疑似肺癌病例,利用支气管冲洗液检测EGFR突变是对活检组织基因检测的有效补充.

abstractsObjective To evaluate the clinical application of bronchial washing fluid (BWF) in the detection of epidermal growth factor receptor ( EGFR ) gene mutation in lung cancer patients during diagnostic bronchoscopic procedure.Methods Patients with suspected lung cancer lesions but failed to be identified as malignancy by rapid on-site cytologic evaluation (ROSE) were enrolled. Performed blocker PCR for EGFR mutation detection using the supernatant and cell pellet of BWF samples and compared the detective results to the EGFR mutation status detected using histologic tumor samples. Results A total of 85 BWF and paired histological samples were collected at Fudan University Affiliated Zhongshan Hospital from October 2016 to June 2017. There were 46 male and 39 female, with a mean age of 61 years ( range 30-87 years) . Thirty-one patients had benign diseases and 54 patients had primary lung cancer. Among these 54 lung cancer patients, the diagnoses were made basing on bronchoscopic biopsy samples in 31 patients. The detection rate of EGFR gene mutation in BWF samples was 100. 0% concordant with that using histological samples. Another 23 cases whose bronchoscopic biopsy failed to establish malignant diagnoses were further identified by other sampling methods including surgical resection, lung biopsy, etc. A total of 15 patients were identified as EGFR mutated type by pathologic detection or clinically effect assessment, and BWF could detect 11 of them, accounting for 11/15 of all cases. Overall, BWF had achieved an overall accuracy of 95. 3%(81/85) comparing to paired tumor histologic samples. Conclusions BWF is an effective complementary specimen to bronchoscopic biopsy samples in EGFR gene mutation detection in patients with suspected lung cancer lesion and negative biopsy results evaluated by ROSE during bronchoscopy.