Arhant Gwenaëlle, Lachkar Samy, Thiebaut Pierre-Alain, Marguet Florent, Lamy Aude, Thiberville Luc, Salaün Mathieu, Guisier Florian, Sabourin Jean-Christophe, Piton Nicolas
Department of Pathology, Normandie Univ, UNIROUEN, Institut national de la santé et de la recherche médicale (INSERM) U1245, CHU Rouen, Rouen, France.
Department of Pneumology, CHU Rouen, Rouen, France.
JTO Clin Res Rep. 2023 Oct 19;5(2):100596. doi: 10.1016/j.jtocrr.2023.100596. eCollection 2024 Feb.
DNA genotyping from plasma is a useful tool for molecular characterization of NSCLC. Nevertheless, the false-negative rate justifies the development of methods with higher sensitivity, especially in difficult-to-reach peripheral lung tumors.
We aimed at comparing molecular analysis from the supernatant of guide sheath flush fluid collected during radial-EndoBronchial UltraSound (r-EBUS) bronchoscopy with plasma sampling and tumor biopsies in patients with peripheral NSCLC. The DNA was genotyped using high-throughput sequencing or the COBAS mutation test. There were 65 patients with peripheral lung tumors subjected to concomitant sampling of guide sheath flush supernatant, plasma tumor DNA, and tumor biopsy and cytology using r-EBUS. There were 33 patients (including 24 newly diagnosed with having NSCLC) with an identifiable tumor mutation in the primary lesion selected for the comparative analysis.
Guide sheath flush-based genotyping yielded a mutation detection rate of 61.8% (17 of 24 mutated , one of two , one of one , one of one , one of four , and zero of one ), compared with 33% in plasma-based genotyping ( = 0.0151). Furthermore, in eight of 34 r-EBUS without tumor cells on microscopic examination, we were able to detect the mutation in four paired guide sheath flush supernatant, compared with only two in paired plasma.
The detection of tumor DNA in the supernatant of guide sheath flush fluid collected during r-EBUS bronchoscopy represents a sensitive and complementary method for genotyping NSCLC.
血浆DNA基因分型是用于非小细胞肺癌（NSCLC）分子特征分析的有用工具。然而，假阴性率促使人们开发具有更高灵敏度的方法，尤其是对于难以触及的外周肺肿瘤。
我们旨在比较经径向支气管内超声（r-EBUS）支气管镜检查期间收集的引导鞘冲洗液上清液与外周NSCLC患者血浆采样及肿瘤活检的分子分析结果。使用高通量测序或COBAS突变检测对DNA进行基因分型。共有65例外周肺肿瘤患者接受了r-EBUS引导鞘冲洗上清液、血浆肿瘤DNA以及肿瘤活检和细胞学的同步采样。有33例患者（包括24例新诊断为NSCLC的患者），其原发性病变中有可识别的肿瘤突变，被选用于比较分析。
基于引导鞘冲洗的基因分型突变检测率为61.8%（24例突变中有17例，2例中有1例，1例中有1例，1例中有1例，4例中有1例，1例中有0例），而基于血浆的基因分型为33%（P = 0.0151）。此外，在34例显微镜检查无肿瘤细胞的r-EBUS中，有8例，我们在4例配对的引导鞘冲洗上清液中检测到了突变，而配对血浆中仅2例检测到。
r-EBUS支气管镜检查期间收集的引导鞘冲洗液上清液中肿瘤DNA的检测是一种用于NSCLC基因分型的敏感且互补的方法。
