超声支气管镜引导下针吸活检术结合免疫组化及基因学检测在肺癌诊治中的应用*

Clinical value of EBUS-TBNA combining IHC and molecular testing in lung cancer*

摘要:

目的   评价超声支气管镜引导下针吸活检术（EBUS-TBNA）结合免疫组化技术和基因学检测在肺癌的诊断及治疗中的应用价值。方法   回顾性分析从2013年5月-2015年10月共55例初诊的临床诊断纵隔占位或疑为肺癌伴纵膈或肺门淋巴结转移的患者，为明确诊断行EBUS-TBNA检查，必要时联合免疫组化检测进一步完善诊断及分型，并对部分肺癌患者行表皮生长因子受体（EGFR）或间变性淋巴瘤激酶（ALK）检测以明确分子分型从而为靶向治疗提供依据。结果  55例患者中，经EBUS-TBNA确诊为肺癌37例，肺转移癌3例，软组织肉瘤1例，转移性淋巴结腺癌1例，淋巴瘤1例，结核病4例，慢性炎症1例，7例经EBUS-TBNA未能明确诊断。EBUS-TBNA在该组肺癌诊断中的敏感性及准确性分别为92.5%（37/40）和94.5%（52/55）。29例EBUS-TBNA组织标本依赖免疫组化检测证实为肺癌且得到明确分型，其中17例肺腺癌，6例肺鳞癌，6例小细胞肺癌。6例EBUS-TBNA组织标本行EGFR基因检测，其中1例同时行ALK基因检测，基因检测结果示EGFR基因突变型4例，ALK基因无融合1例。所有病例无1例严重并发症发生。结论  EBUS-TBNA诊断肺癌具有良好价值，且安全性较好，结合免疫组织组化检测及基因突变检测对肺癌的诊断及指导治疗有突出的价值。

Abstract:

Objective  To investigate the clinical value of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) combining immunohistochemisty (IHC) and molecular testing in lung cancer. Methods 55 patients with mediastinal, and/or hilar lymphadenopanthy, and/or mediastinal mass previously detected by CT or PET/CT scan and who underwent EBUS-TBNA from May 2013 and October 2015 was retrospectively reviewed. Additional immunohistological analysis was performed for establishing a reliable diagnosis when necessary. Some samples were tested for the EGFR and/or ALK mutations to provide suitable mutational genotyping for adenocarcinoma. Results Of the 55 patients, 37 primary lung cancer, 3 metastatic lung cancer, 1 soft tissue sarcoma, 1 lympoma, 1 metastatic lymph node adenocarcinoma, 4 tuberculosis and 1 reactive lymphadenitis was diagnosed by EBUS-TBNA, non-diagnosed in 7 cases. The sensitivity and diagnostic accuracy of EBUS-TBNA in the diagnosis of lung cancer were 92.5 % (37/40) and 94.5 % (52/55), respectively. 29 samples were further confirmed and obtained definite type by Immunohistochemistry (IHC), seventeen adenocarcinoma of lung, 6 lung squamous EBUS-TBNA carcinoma and 6 small cell lung cancer. 6 EBUS-TBNA samples from patients with adenocarcinoma of lung referred for EGFR testing were analyzed, 4 patients were found to have EGFR gene mutations, ALK-negative 1 cases. The procedure was uneventful without complications. Conclusions EBUS-TBNA was a safe and effective method with high sensitivity and specificity in the diagnosis of lung cancer. Especially it combining with IHC and molecular testing have important clinical value in diagnosis and guiding the treatment strategy.