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Rational: LDCT screening can identify early-stage lung cancers yet introduces excessive false positives and it remains a great challenge to differentiate malignant tumors from benign solitary pulmonary nodules, which calls for better non-invasive diagnostic tools.

Methods: We performed DNA methylation profiling by high throughput DNA bisulfite sequencing in tissue samples (nodule size< 3 cm in diameter) to learn methylation patterns that differentiate cancerous tumors from benign lesions. Then we filtered out methylation patterns exhibiting high background in circulating tumor DNA (ctDNA) and built an assay for plasma sample classification.

Results: We first performed methylation profiling of 230 tissue samples to learn cancer-specific methylation patterns which achieved a sensitivity of 92.7%(88.3%-97.1%) and a specificity of 92.8%(89.3%-96.3%). These tissue-derived DNA methylation markers were further …