下一代测序在 NSCLC 同步 EBUS-TBNA 和液体活检中的临床应用价值
Clinical Utility of Next Generation Sequencing in Concurrent EBUS-TBNA and Liquid Biopsies in NSCLC.
作者
作者单位
- Professor of Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, Davis Heart and Lung Institute, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA, 241 West 11th Avenue, Suite 5000, Columbus, OH 43201.
- Assistant Professor of Medicine, Medical University of South Carolina, Thoracic Oncology Research Group, Division of Pulmonary and Critical Care Medicine. Charleston, South Carolina, USA.
- Associate Professor of Medicine, Medical University of South Carolina, Thoracic Oncology Research Group, Division of Pulmonary and Critical Care Medicine. Charleston, South Carolina, USA.
- Associate Professor of Medicine, Johns Hopkins University, Division of Pulmonary and Critical Care Medicine, Baltimore, Maryland, USA.
- Professor of Medicine, Medical University of South Carolina, Thoracic Oncology Research Group, Division of Pulmonary and Critical Care Medicine. Charleston, South Carolina, USA.
- Professor of Medicine, Johns Hopkins University, Division of Pulmonary and Critical Care Medicine, Baltimore, Maryland, USA.
- Research Associate Professor, Department of Public Health Sciences, Medical University of South Carolina, Charleston, South Carolina, USA.
- Johns Hopkins University, Division of Pulmonary and Critical Care Medicine, Baltimore, Maryland, USA.
- Medical University of South Carolina, Thoracic Oncology Research Group, Division of Pulmonary and Critical Care Medicine. Charleston, South Carolina, USA.
- Senior Fellow, Medical University of South Carolina, Thoracic Oncology Research Group, Division of Pulmonary and Critical Care Medicine. Charleston, South Carolina, USA.
- Fellow, Johns Hopkins University, Division of Pulmonary and Critical Care Medicine, Baltimore, Maryland, USA.
- Medical Student, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
- Assistant Professor, Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, Davis Heart and Lung Institute, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
- Associate Professor, Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, Davis Heart and Lung Institute, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
- Professor of Medicine, Division of Medical Oncology at the Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, Columbus, Ohio, USA.
摘要
中文
基因检测是非小细胞肺癌（NSCLC）的标准诊疗手段。评估同步行 EBUS-TBNA 和液体活检进行下一代测序（NGS）的研究较少。本研究比较了同步 EBUS-TBNA 和液体活检通过 NGS 检测临床相关突变的诊断率差异。这是一项针对接受同步活检的 NSCLC 患者的前瞻性观察性队列研究。计算了临床相关突变的检出率差异、受试者工作特征（ROC）曲线及 kappa 统计量。在 199 例受试者中,EBUS-TBNA 中 EGFR 检出率为 9.5%,血液为 7.0%,检出率差异为 2.5%（95% CI：3.4%, 8.5%, p = 0.36）。对于临床相关靶点,EBUS-TBNA 检出 79 例（39.7%）,血液检出 49 例（29.6%）,检出率差异为 15.1%（95% CI：5.5%, 24.2%, p = 0.001）。以组织结果为金标准,检测临床相关突变的 ROC 统计包括：灵敏度 0.53（95% CI：0.42, 0.64）,特异度 0.95（95% CI：0.90, 0.98）,阳性预测值 0.89（95% CI：0.77, 0.96）,阴性预测值 0.74（95% CI：0.65, 0.81）,kappa 统计量 0.51（95% CI：0.39, 0.63）。仅在组织中检出突变者 37 例（18.6%）,仅在血液中检出者 7 例（3.5%）,两者均检出者 42 例（21.1%）。EBUS-TBNA 比血液更易检出突变,但部分患者仅在血液中检出突变,提示血液检测具有补充作用。仍需制定策略以缩短 NGS 周转时间（TAT）并改进样本量不足（QNS）的定义。
English
Genetic testing is standard of care in Non-small Cell Lung Cancer(NSCLC). Few studies evaluate concurrent Endobronchial Ultrasound-Transbronchial Needle Aspiration(EBUS-TBNA) and liquid biopsy for Next Generation Sequencing(NGS). Compare diagnostic yield differences for detecting clinically relevant mutations via NGS in concurrent EBUS-TBNA and liquid biopsies. Prospective observational cohort study of NSCLC patients undergoing concurrent biopsies. Yield differences, receiver operating characteristic (ROC) and kappa statistics were calculated for clinically relevant mutations. Of 199 subjects, diagnostic yield for EGFR was 9.5% in EBUS-TBNA and 7.0% in blood with yield difference 2.5%(95% CI: 3.4%, 8.5%, p = 0.36). For clinically relevant targets, there were 79(39.7%) from EBUS-TBNA and 49(29.6%) from blood with yield difference 15.1%(95% CI: 5.5%, 24.2%, p = 0.001). ROC statistics for detection of clinically relevant mutations (where tissue results were the gold standard) included: sensitivity 0.53 (95% CI: 0.42, 0.64), specificity: 0.95(95% CI: 0.90,0.98), positive predictive value: 0.89 (95% CI: 0.77, 0.96), negative predictive value: 0.74 (95% CI: 0.65, 0.81), and kappa statistic: 0.51 (95% CI: 0.39, 0.63). There were 37 (18.6%) participants with mutations in tissue only and 7(3.5%) with mutations in blood only, while 42(21.1%) had mutations reported from both sources. EBUS-TBNA was more likely to detect mutations than blood. However, some patients had mutations in blood only, suggesting blood testing is complementary. Strategies are needed to improve NGS turnaround time(TAT) and QNS definition.
分类与指标
- 研究类型
- 临床研究
- 病种
- 肺癌
- JCR 分区
- Q1
- 影响因子
- 21.7
- 新锐分区
- 1区