Yanev Nikolay, Mekov Evgeni, Valev Dinko, Yankov Georgi, Milanov Vladimir, Bichev Stoyan, Gabrovska Natalia, Kostadinov Dimitar
Department of Pulmonary Diseases, Medical University - Sofia, Sofia, Bulgaria.
University Hospital "St. Ioan Krustitel", Sofia, Bulgaria.
PeerJ. 2021 May 14;9:e11448. doi: 10.7717/peerj.11448. eCollection 2021.
In recent years, there has been a revolution in the genomic profiling and molecular typing of lung cancer. A key oncogene is the epidermal growth factor receptor (EGFR). The gold standard for determining EGFR mutation status is tissue biopsy, where a histological specimen is taken by a bronchoscopic or surgical method (transbronchial biopsy, forceps biopsy, etc.). However, in clinical practice the tissue sample is often insufficient for morphological and molecular analysis. Bronchoalveolar lavage is a validated diagnostic method for pathogenic infections in the lower respiratory tract, yet its diagnostic value for oncogenic mutation testing in lung cancer has not been extensively investigated. This study aims to compare the prevalence of EGFR mutation status in bronchoalveolar lavage and peripheral blood referring to the gold standard - tissue biopsy in patients with primary lung adenocarcinoma.
Twenty-six patients with adenocarcinoma were examined for EGFR mutation from tissue biopsy, peripheral blood sample and bronchoalveolar lavage.
Thirteen patients had wild type EGFR and the other 13 had EGFR mutation. EGFR mutation from a peripheral blood sample was identified in 38.5% (5/13) of patients, whereas EGFR mutation obtained from bronchoalveolar lavage (BAL) was identified in 92.3% (12/13). This study demonstrates that a liquid biopsy sample for EGFR status from BAL has a higher sensitivity compared to a venous blood sample.
近年来,肺癌的基因组分析和分子分型发生了一场革命。一个关键的致癌基因是表皮生长因子受体(EGFR)。确定EGFR突变状态的金标准是组织活检,即通过支气管镜或手术方法(经支气管活检、钳取活检等)获取组织学标本。然而,在临床实践中,组织样本往往不足以进行形态学和分子分析。支气管肺泡灌洗是一种用于诊断下呼吸道致病感染的有效方法,但其对肺癌致癌突变检测的诊断价值尚未得到广泛研究。本研究旨在比较原发性肺腺癌患者支气管肺泡灌洗和外周血中EGFR突变状态的患病率,并以组织活检作为金标准。
对26例腺癌患者的组织活检、外周血样本和支气管肺泡灌洗进行EGFR突变检测。
13例患者EGFR为野生型,另外13例有EGFR突变。外周血样本中EGFR突变在38.5%(5/13)的患者中被检测到,而支气管肺泡灌洗(BAL)中EGFR突变在92.3%(12/13)的患者中被检测到。本研究表明,与静脉血样本相比,来自BAL的用于检测EGFR状态的液体活检样本具有更高的敏感性。