Figure 3.

Tumor mutation profiling of BAL fluid in at risk controls identifies field cancerization. A, Mean VAF% (y-axis, log₁₀ scale) for mutations detected in lung cancer patients compared with risk-matched controls for BAL cfDNA (P < 0.001) and plasma cfDNA (P = 0.002) by the tumor-naïve calling approach (Supplementary Table S8). Box plots depict median values, 25% to 75% IQR, and minimal and maximal values. The number of variants represented in the scatter plots are denoted in the x-axis labels. Blue, BAL cfDNA. Red, Plasma. P values are displayed above the plot. B, Fraction of patients with cancer and controls with driver mutations detected in BAL (blue) or plasma cfDNA (red). NS, not significant. C, Oncoprint of lung cancer driver genes in 27 lung cancer cases and 21 risk-matched controls for BAL cfDNA profiles (Supplementary Table S8). Tumor DNA results are shown for patients with cancer. Each column denotes one patient and each row a driver mutation. For mutations found in tumors, BAL cfDNA mutations are only shown if they are identical. Clinical characteristics [tumor histology, tumor stage according to American Joint Committee on Cancer (AJCC) VIII guidelines, smoking status, and age in years] are displayed at the top of the oncoprint. For diagnosis, a black box represents a cancer patient and a white box a noncancer patient. NSCLC, non–small cell lung cancer.