Department of Internal Medicine, Inha University Hospital, Incheon, South Korea
Department of Internal Medicine, Inha University Hospital, Incheon, South Korea.
Oncologist. 2019 Jul;24(7):e603-e606. doi: 10.1634/theoncologist.2019-0147. Epub 2019 Apr 29.
A blood-based approach such as circulating tumor DNA remains challenging in diagnosis for early-stage disease. Bronchial washing (BW) is a minimally invasive procedure that yields fluids that may contain tumor DNA. Therefore, we prospectively enrolled 12 patients with early-stage non-small cell lung cancer without endoscopically visible tumors. Somatic mutations were analyzed using ultra-deep next-generation sequencing in 48 paired specimens (primary tumor tissue, normal tissue, BW supernatant, and BW precipitate). In primary tumors, 130 missense mutations/indels (5-16 per patient) and 20 driver mutations (0-3 per patient) were found. Concordance of driver mutations between BW fluids and primary tumors was 95.0%. The allele frequencies for missense mutations/indels in BW supernatants significantly correlated with those in primary tumors and were higher than those in BW precipitates. These findings suggest that BW supernatants are reflective of tumor-associated mutations and could be used for early-stage lung cancer diagnosis.
一种基于血液的方法,如循环肿瘤 DNA,在早期疾病的诊断中仍然具有挑战性。支气管灌洗(BW)是一种微创程序,可产生可能含有肿瘤 DNA 的液体。因此,我们前瞻性地招募了 12 名没有内镜可见肿瘤的早期非小细胞肺癌患者。使用超深度下一代测序对 48 对标本(原发性肿瘤组织、正常组织、BW 上清液和 BW 沉淀物)进行了体细胞突变分析。在原发性肿瘤中,发现了 130 个错义突变/插入缺失(每个患者 5-16 个)和 20 个驱动突变(每个患者 0-3 个)。BW 液体和原发性肿瘤之间的驱动突变一致性为 95.0%。BW 上清液中错义突变/插入缺失的等位基因频率与原发性肿瘤显著相关,且高于 BW 沉淀物。这些发现表明 BW 上清液反映了与肿瘤相关的突变,可用于早期肺癌的诊断。