Next generation sequencing-based molecular profiling of lung adenocarcinoma using pleural effusion specimens

作者：Liping Liu, Ди Шао, Qiuhua Deng, Hailing Tang, Jingjing Wang, Jilong Liu, Fengming Guo, Yongping Lin, Zhiyu Peng, Mao Mao, Karsten Kristiansen, Mingzhi Ye, Jianxing He · 发表于：Journal of Thoracic Disease · 年份：2018 · DOI：10.21037/jtd.2018.04.125 · 被引用次数：43 · 研究领域：Lung Cancer Treatments and Mutations、Lung Cancer Diagnosis and Treatment、Pleural and Pulmonary Diseases

BACKGROUND: Molecular profiling of non-small cell lung cancer (NSCLC) is essential for therapeutic decision-making. Pleural effusion obtained by a non-invasive, repeatable procedure may provide an opportunity for molecular profiling and thereby possibly provide information enabling targeted therapy. In this study, we aimed to evaluate the diagnostic performance of pleural effusion as a specimen for molecular analysis. METHODS: mutation status in thoracic biopsy specimens was tested using ARMS PCR. RESULTS: The concordance rate between gene status identified by ARMS and next-generation sequencing (NGS) analysis in the thoracic biopsy and pleural effusion samples was 86.7% (26/30). Compared with the thoracic biopsy specimens, the diagnostic performance of pleural effusion showed a sensitivity of 92.3%, a specificity of 50.0%, and a positive predictive value of 92.3%. Therefore, cases with a low percentage of tumor cells (<5%) can successfully be used to detect actionable mutations in pleural effusion specimens. CONCLUSIONS: These results suggest that pleural effusions are suitable specimens for oncogene mutation analysis and enable targeted therapy for patients with advanced NSCLC.