天津医药

天津医药 ›› 2022, Vol. 50 ›› Issue (3): 319-323.doi: 10.11958/20212015

• 应用研究 • 上一篇    下一篇

RASSF1A和SHOX2基因甲基化检测联合快速现场细胞学评价对肺癌的诊断价值

任雪珠，张树森，蔡志刚，李海涛，许晓岚，齐天杰，李宏林   

  1. 1河北医科大学第二医院呼吸与危重症医学一科（邮编050000）；2河北呼吸危重症重点实验室；3河北医科大学附属邢台市人民医院呼吸与危重症医学科
  • 收稿日期:2021-09-01 修回日期:2021-12-12 出版日期:2022-03-15 发布日期:2022-03-15
  • 基金资助:
    2020年度河北省医学科学研究课题计划（20200060）；河北省县级综合医院适宜卫生技术推广项目资助（20200017）

Diagnostic value of RASSF1A and SHOX2 gene methylation detection combined with rapid on-site cytological evaluation in lung cancer

REN Xuezhu, ZHANG Shusen, CAI Zhigang, LI Haitao, XU Xiaolan, QI Tianjie, LI Honglin   

  1. 1 The Frist Department of Respiratory and Critical Care Medicine, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China; 2 Hebei Key Laboratory of Respiratory Critical Care; 3 Department of Respiratory and Critical Care Medicine, Xingtai People’s Hospital Affiliated to Hebei Medical University
  • Received:2021-09-01 Revised:2021-12-12 Published:2022-03-15 Online:2022-03-15

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摘要： 目的　评估RAS相关区域家族1A（RASSF1A）联合矮小同源盒基因2（SHOX2）基因甲基化检测和快速现场细胞学评价（C-ROSE）对肺癌的诊断价值。方法　选取行RASSF1A和SHOX2甲基化检测并有明确病理诊断的179例可疑肺癌患者，其中肺癌58例，肺良性病变121例。179例中114例（肺癌45例，肺良性病变69例）通过迪夫快速染色完成C-ROSE检测。以病理结果为金标准，分析RASSF1A、SHOX2甲基化和（或）C-ROSE诊断肺癌的敏感度及特异度，同时明确不同标本类型和不同肿瘤类型中RASSF1A和SHOX2甲基化的结果与病理诊断的一致性。结果　RASSF1A联合SHOX2甲基化检测的敏感度为77.59%（45/58），特异度为80.17%（97/121）。亚组分析中，肺穿刺活检及肺泡灌洗液标本中甲基化与病理诊断一致率较好，分别为88.8%（8/9）、79.75%（126/158），而胸水的一致率稍差，为63.64%（7/11）。小细胞肺癌和鳞癌甲基化检测准确率分别为100%（5/5）、92.31%（12/13），肺腺癌为66.67%（18/27）。C-ROSE检测的敏感度为75.56%（34/45），特异度为95.65%（66/69）。甲基化检测联合C-ROSE的敏感度为86.96%（39/45），特异度为86.67%（60/69）。结论　RASSF1A、SHOX2甲基化检测及C-ROSE用于肺癌的诊断均具有较高的敏感度和特异度，两者结合将成为病理学诊断的有效的补充手段，两者结合有助于进一步提高诊断肺癌的效能。

关键词: 肺肿瘤, DNA甲基化, 诊断, RAS相关区域家族1A, 矮小同源盒基因2, 快速现场细胞学评价

Abstract: Objective　To evaluate the diagnostic value of RASSF1A and SHOX2 gene methylation detection combined with rapid on-site cytological evaluation (C-ROSE) in lung cancer. Methods　A total of 179 patients suspected lung cancer patients with RASSF1A and SHOX2 methylation detection and definite pathological diagnosis were selected, including 58 cases of lung cancer and 121 cases of benign lung disease. C-rose detection was performed in 114 of 179 patients (45 lung cancers and 69 benign lung lesions) by Diff-quick staining. Using pathological results as the gold standard, the sensitivity and specificity of RASSF1A, SHOX2 methylation and/or C-ROSE in the diagnosis of lung cancer were analyzed. The consistency between the results of RASSF1A and SHOX2 methylation in different specimen types and different tumor types and pathological diagnosis was determined. Results　The sensitivity and specificity of RASSF1A combined with SHOX2 methylation detection were 77.59% (45/58) and 80.17% (97/121), respectively. In the subgroup analysis, the coincidence rates between methylation and pathological diagnosis in lung biopsy and biopsy and alveolar lavage fluid (BALF) specimens were 88.89% (8/9) and 79.75% (126/158), respectively, while the consistency of pleural fluid was less than 63.64% (7/11). In the subgroup analysis of lung cancer types, the accuracy of methylation detection was 100% (5/5) and 92.31% (12/13) in lung small cell carcinoma and squamous cell carcinoma. which was 66.67% (18/27) in lung adenocarcinoma. The sensitivity and specificity of C-ROSE detection were 75.56% (34/45) and 95.65% (66/69) respectively. The sensitivity of methylation detection combined with C-ROSE was 86.96% (39/45), and the specificity was 86.67% (60/69). Conclusion　RASSF1A, SHOX2 gene methylation and C-ROSE have a good sensitivity and specificity for the diagnosis of lung cancer. The combination of the two will become an effective supplementary means for pathological diagnosis, and help to further improve the diagnostic efficiency of lung cancer.

Key words: lung neoplasms, DNA methylation, diagnosis, ras association domain family 1A, short stature homeobox 2, cytological rapid on-site evalutation