Diagnosis of pulmonary nodules by DNA methylation analysis in bronchoalveolar lavage fluids

Autor: Qiaoyun Huang, Yanying Liu, Weihe Liang, Jing Jin, Weimin Li, Sai Yang, Yingying Zhu, Zhujia Ye, Lei Li, Jiehan Xu, Jian-Bing Fan, Jinsheng Tao, Dan Liu, Hao Yang, Mengzhu Yang, Zhiwei Chen, Siyu Chen, Bo Wang
Rok vydání: 2021
Předmět:
Zdroj: Clinical Epigenetics
ISSN: 1868-7083
1868-7075
DOI: 10.1186/s13148-021-01163-w
Popis: BackgroundLung cancer is the leading cause of cancer-related mortality. The alteration of DNA methylation plays a major role in the development of lung cancer. Methylation biomarkers become a possible method for lung cancer diagnosis.ResultsWe identified eleven lung cancer-specific methylation markers (CDO1, GSHR, HOXA11, HOXB4-1, HOXB4-2, HOXB4-3, HOXB4-4, LHX9, MIR196A1,PTGER4-1,andPTGER4-2), which could differentiate benign and malignant pulmonary nodules. The methylation levels of these markers are significantly higher in malignant tissues. In bronchoalveolar lavage fluid (BALF) samples, the methylation signals maintain the same differential trend as in tissues. An optimal 5-marker model for pulmonary nodule diagnosis (malignant vs. benign) was developed from all possible combinations of the eleven markers. In the test set (57 tissue and 71 BALF samples), the area under curve (AUC) value achieves 0.93, and the overall sensitivity is 82% at the specificity of 91%. In an independent validation set (111 BALF samples), the AUC is 0.82 with a specificity of 82% and a sensitivity of 70%.ConclusionsThis model can differentiate pulmonary adenocarcinoma and squamous carcinoma from benign diseases, especially for infection, inflammation, and tuberculosis. The model’s performance is not affected by gender, age, smoking history, or the solid components of nodules.
Databáze: OpenAIRE
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