Resectable Lung Lesions Malignancy Assessment and Cancer Detection by Ultra-Deep Sequencing of Targeted Gene Mutations in Plasma Cell-Free DNA

Liquid biopsy detecting circulating tumor DNA in the blood is promising in non-invasively providing valuable molecular information on the small nodules found on the low dose CT images. In a cohort of 192 patients with nodules sized between 0.5 – 3 cm and diagnosed by pathology to be one quarter of benign disease and 85% of the cancerous lesions being at early phase (Stage I and II), the deep sequencing of a panel of 65 genes (average 35,000X) achieved an average sensitivity of 69% and specificity of 96%. As the cancer stage advances, the sensitivity increases and reached 94% for Stage III patients. It shows the feasibility of ctDNA markers to be used in lung nodule malignancy assessment and early cancer detection. (By Dr. Chuanbo Xu, https://jmg.bmj.com/content/early/2019/04/13/jmedgenet-2018-105825)

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