Background: Endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA) has emerged as an innovative technique for diagnosis and staging of lung cancer. But whether the procedure can provide enough tissue for the detection of gene mutations is still to be defined. Here we evaluated the efficacy of lung cancer diagnosis and gene analysis using samples obtain via EBUS-TBNA.
Methods: Patients with suspected lung cancer and mediastinal lesions were referred for EBUS-TBNA. Diagnosis and sub-classifications were made by pathologists. Samples with non-squamous non small cell lung cancer sub type were tested for the EGFR and/or ALK mutations.
Results: A total of 377 patients were included in this study. The median needle passes were 2.07. Lung cancer was diagnosed in 213 patients. The diagnosis accuracy for malignancy was 92%. Epidermal growth factor receptor (EGFR) mutations, anaplasticlymphoma kinase (ALK) fusion genes and double genes analysis were successfully preformed in 84 (90%), 105 (95%) and 79 (90%) patients. The number of needle passes and the diameters of lymph node were not associated with the efficacy of gene testing in univariate analysis. However, samples of adenocarcinoma sub type showed a tendency associated with higher genotyping efficacy.
Conclusions: Tissue samples obtained through EBUS-TBNA are sufficient for pathological diagnosis and genetic analysis of lung cancer. The pathology type of sample affected genotyping efficacy.
【中文题目：超声气管镜针吸活检在肺癌诊断 及基因检测中的作用】 【中文摘要：背景与目的 超声气管镜针吸活检（endobronchial ultrasound guided tranbronchial needle aspiration, EBUS-TBNA）是临床怀疑肺癌患者的常用活检方式，在肺癌的诊断和分期中有着举足轻重的作用。然而该活检方式在诊断之余是否亦能提供充分的组织完成基因检测尚待研究。本文评价EBUS-TBNA所取得标本进行肺癌诊断及相关基因检测的可行性。方法 对纵隔淋巴结肿大且临床怀疑肺癌诊断的患者进行EBUS-TBNA活检，所取得的标本进行病理诊断并对其中的非鳞非小细胞肺癌标本进行驱动基因检测。分析其诊断阳性率以及完成基因检测的可行性。结果 入选377例患者平均单个淋巴结穿刺2.07针，确诊肺癌213例，经EBUS-TBNA诊断率92%。其中表皮生长因子受体（epidermal growth factor receptor, EGFR）基因、间变淋巴瘤激酶（anaplasticlymphoma kinase, ALK）融合基因、以及同时完成两个基因检测的患者分别为84例（90%）、105例（96%）及79例（90%）。单因素分析显示组织基因检测成功率与穿刺淋巴结针数、淋巴结大小及淋巴结部位无关，但与肿瘤病理类型相关。腺癌病理类型的EGFR基因突变及ALK融合基因检测的成功率均高于未分类非小细胞肺癌。结论 EBUS-TBNA可提供充足的组织对肺癌进行诊断和基因分型。肿瘤病理类型可能是影响基因检测阳性率的因素。 】 【中文关键词：超声气管镜针吸活检；肺肿瘤；基因检测】.
Keywords: Endobronchial ultrasound guided transbronchial needle aspiration; Gene analysis; Lung neoplasms.