SHOX2和RASSF1A基因甲基化检测联合细胞学检查在支气管灌洗液标本诊断肺癌中的应用价值

Value of DNA methylation analysis of SHOX2 and RASSF1A in bronchoalveolar lavage fluid combined with cytopathologic detection in diagnosis of lung cancer

目的探讨在支气管灌洗液标本中SHOX2和RASSF1A基因甲基化检测联合液基细胞学对肺癌的诊断价值。方法收集2023年3月至7月于北京胸科医院病理科检测的106例疑似肺癌患者(肺癌组84例,肺部良性疾病组22例)的气管灌洗液样本,分别做甲基化检测和液基细胞学诊断,以组织病理结果为金标准,对比两种方法的检测结果。结果SHOX2和RASSF1A联合检测的灵敏度是52.4%(44/84)、特异度是(100%)。在亚型分组中,联合检测在小细胞癌、鳞癌和腺癌中检测的阳性率分别是(66.7%;8/12)、(72%;18/25)和(35.9;14/39)。在临床分期中,联合检测在晚期肺癌高达60.0%,明显高于早期检出率(P<0.05)。液基细胞学诊断的敏感性是(44.0%;37/84),特异性是(95.2%;20/21),甲基化检测和液基细胞学检查两种方法联合应用,检测的敏感性为(65.5%,55/84)。结论SHOX2和RASSF1A基因甲基化联合检测在诊断肺癌中有较高的敏感性和特异性,可以作为支气管灌洗液细胞病理学诊断的有效辅助手段,两者结合可进一步提高肺癌的诊断效能。

Objective To evaluate the diagnostic value of SHOX2 and RASSF1A gene methylation detection combined with liquid-based cytology in bronchoalveolar lavage fluid(BALF)in the diagnosis of lung cancer.Methods The BALF samples of 106 patients with suspected lung cancer(84 patients with lung cancer and 22 patients with benign lung lesion)were collected.The methylation of SHOX2 and RASSF1A genes in BALF was detected by PCR.Liquid-based cytology was performed using BALF samples.Using pathological results as the gold standard,the diagnostic performance of SHOX2 and RASSF1A methylation detection as well as the liquid-based cytology of BALF was assessed.Results The sensitivity and specificity of SHOX2 combined with RASSF1A methylation detection were 52.4%and 100%,respectively.In the subgroup analysis of lung cancer types,the diagnostic accuracy of methylation detection was 66.7%,72.0%,and 35.9%in small cell lung cancer,squamous cell lung cancer,and lung adenocarcinoma,respectively.The positive rate of combined detection of SHOX2 and RASSF1A gene methylation was 60.0%in advanced lung cancer,higher than that in early lung cancer.The sensitivity and specificity of cytology detection was 44.0%and 95.5%,respectively.The sensitivity of methylation detection combined with cytology detection was 65.5%.Conclusion The methylation analysis of SHOX2 and RASSF1A genes in BALF has good sensitivity and specificity in the diagnosis of lung cancer.SHOX2 and RASSF1A methylation analysis combined with cytology can significantly improve the sensitivity of lung cancer diagnosis,and is an effective supplement for pathological diagnosis of lung cancer.