Extended Data Fig. 5: Molecular landscape of the tumor evolution comparing tissue at baseline and plasma at relapse.
a, Comparative molecular profiling of pathogenic mutations and CNVs in paired tissue at baseline and plasma at relapse samples from 25 CC patients. Each box in the illustration denotes a mutated gene in an individual patient, bifurcated into two sections by a line. The left segment corresponds to findings derived from the primary tumor, while the right segment corresponds to plasma at relapse. Similarly, each box associated with a specific collection moment is further divided into two components: the left portion denotes point mutations, and the right portion represents CNVs. The Y-axis is organized based on the number of point mutations for each gene across all patients. b, Concordance comparison between the primary tumor and plasma at relapse (n = 25 patients) versus the concordance of plasma at both baseline and relapse (n = 12 patients) of somatic mutations across the discovery cohort (two-sided Wilcoxon test; p-value = 0.0015). Data are presented as median values +/- standard deviation. Concordance is calculated by comparing each patient with themselves at different stages.
