UOC Pneumologia, Fondazione Policlinico "A. Gemelli" IRCSS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy.
UOC Oncologia, Fondazione Policlinico "A. Gemelli" IRCSS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy.
Mol Diagn Ther. 2018 Dec;22(6):723-728. doi: 10.1007/s40291-018-0359-3.
Cytological endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) specimens of mediastinal lymph node metastasis are frequently used to perform concomitant diagnosis, staging and genetic testing in non-small-cell lung cancer (NSCLC). The purposes of this single-center retrospective study were to evaluate EBUS-TBNA samples' adequacy for molecular testing of epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK), and to analyze the concordance between the cell block method and liquid-based cytology (LBC) in appraising the sample cellularity and in detecting EGFR mutation.
We retrospectively examined 82 patients who underwent EBUS-TBNA from October 2012 to September 2015 and received a confirmed diagnosis of lymph node metastasis of lung adenocarcinoma. Each sample was processed using both cell block and LBC to carry out DNA analysis (adequacy criterion: tumor cell percentage > 25%) and EGFR mutation testing.
Fifty-four patients were male, 66 were current or former-smokers, and the median age was 67 years. The median size of sampled lymph nodes was 14.8 mm. Seventy-one and 66 samples were adequate to perform cell block and LBC, respectively. The κ-statistic (0.78) showed an excellent concordance. EGFR mutation was detected in eight patients using cell block and in seven using LBC, with a simple percentage agreement of 87.5%. ALK translocation was found in two patients.
This study demonstrates the feasibility of EGFR mutation analysis with both cell block and LBC, with an excellent concordance between the two methods. Considering that the majority of advanced NSCLCs are diagnosed on cytology specimens, LBC is feasible and needs to be implemented for ancillary tests (immunocytochemistry, molecular analysis).
经支气管超声引导针吸活检（EBUS-TBNA）的纵隔淋巴结转移细胞学标本常用于非小细胞肺癌（NSCLC）的同时诊断、分期和基因检测。本单中心回顾性研究的目的是评估 EBUS-TBNA 标本进行表皮生长因子受体（EGFR）和间变性淋巴瘤激酶（ALK）分子检测的充分性，并分析细胞块法和液基细胞学（LBC）在评估标本细胞密度和检测 EGFR 突变方面的一致性。
我们回顾性检查了 2012 年 10 月至 2015 年 9 月期间接受 EBUS-TBNA 检查并确诊为肺腺癌淋巴结转移的 82 例患者。每个样本均采用细胞块和 LBC 进行处理，以进行 DNA 分析（充分性标准：肿瘤细胞百分比>25%）和 EGFR 突变检测。
54 例患者为男性，66 例为现吸烟者或曾吸烟者，中位年龄为 67 岁。取样淋巴结的中位大小为 14.8mm。71 个和 66 个样本分别足以进行细胞块和 LBC。κ 统计量（0.78）显示出极好的一致性。使用细胞块在 8 例患者中检测到 EGFR 突变，在 7 例患者中使用 LBC 检测到 EGFR 突变，简单百分比一致性为 87.5%。在 2 例患者中发现了 ALK 易位。
本研究证明了细胞块和 LBC 均可进行 EGFR 突变分析，两种方法具有极好的一致性。考虑到大多数晚期 NSCLC 都是通过细胞学标本诊断的，因此 LBC 是可行的，需要为辅助检测（免疫细胞化学、分子分析）实施。
