Kim Mi-Hyun, Kim Soo Han, Seong Hayoung, Eom Jung Seop
Department of Internal Medicine, Pusan National University School of Medicine, Busan, Republic of Korea.
Department of Internal Medicine, Pusan National University Hospital, Busan, Republic of Korea.
JCO Precis Oncol. 2025 Aug;9:e2500299. doi: 10.1200/PO-25-00299. Epub 2025 Aug 1.
Next-generation sequencing (NGS) has become the gold standard for the molecular testing of patients with non-small cell lung cancer (NSCLC). This prospective study evaluated the performance of NGS using cell-free tumor DNA (ctDNA) extracted from bronchial washing fluid (BWF) collected via a targeted washing technique to detect druggable mutations.
All study participants simultaneously underwent NGS using three sample types: (1) BWF, (2) plasma, and (3) tumor tissue collected during bronchoscopy. The full patient set (FPS) included all enrolled patients, whereas the analysis intent group (AIG) included patients who underwent successful NGS across all specimen types (BWF, plasma, and tissue).
Sixty and 50 patients were included in the FPS and AIG groups, respectively. In FPS, the detection rate of druggable mutations in BWF using NGS was 65%, which was significantly higher than that of plasma (47%) and tissue samples (48%; = .003 and = .002, respectively). In the AIG, the concordance rate for detecting druggable mutations between BWF and tissue samples was 94%. In addition, the detection rate of co-occurring genetic alterations in BWF using NGS was significantly higher than that in plasma samples (92% 64%, = .001), whereas it was comparable with that in tissue samples (92% 94%, = 1.000). No significant adverse events occurred during the BWF collection.
NGS using ctDNA from BWF obtained through a targeted washing technique is a feasible and reliable method for genomic profiling of NSCLC, providing a promising approach for identifying druggable mutations.
下一代测序（NGS）已成为非小细胞肺癌（NSCLC）患者分子检测的金标准。本前瞻性研究评估了使用通过靶向冲洗技术收集的支气管冲洗液（BWF）中提取的游离肿瘤DNA（ctDNA）进行NGS检测可靶向治疗突变的性能。
所有研究参与者同时使用三种样本类型进行NGS检测：（1）BWF，（2）血浆，以及（3）支气管镜检查期间采集的肿瘤组织。完整患者集（FPS）包括所有入组患者，而分析意向组（AIG）包括在所有样本类型（BWF、血浆和组织）上均成功进行NGS检测的患者。
FPS组和AIG组分别纳入了60例和50例患者。在FPS组中，使用NGS检测BWF中可靶向治疗突变的检出率为65%，显著高于血浆（47%）和组织样本（48%；分别为P = .003和P = .002）。在AIG组中，BWF与组织样本之间可靶向治疗突变的检测一致性率为94%。此外，使用NGS检测BWF中共存基因改变的检出率显著高于血浆样本（92%对64%，P = .001），而与组织样本相当（92%对94%，P = 1.000）。在BWF采集过程中未发生显著不良事件。
使用通过靶向冲洗技术获得的BWF中的ctDNA进行NGS检测是一种可行且可靠的NSCLC基因组分析方法，为识别可靶向治疗突变提供了一种有前景的方法。
