Comparison between VAF in cfDNA and BM DNA for each gene and characterization of SF3B1 mutations. (A) Ratio of the detected variants of the most frequently mutated genes in our cohort. The red lines indicate the median VAF ratio for each gene. Variants situated in the plot above the line had a higher VAF in cfDNA than in BM DNA, and variants below the line had a higher VAF in BM DNA. SF3B1 mutations were detected with a significantly higher VAF in cfDNA. (B) Ratio of the VAFs in SF3B1 mutations in exons 14, 15, and 16. Mutations in exon 15 of SF3B1 (K700E in all cases) presented a higher VAF cfDNA/BM ratio than mutations in SF3B1 exons 14 and 16. (C) SF3B1 read depth in BM and cfDNA. The ratio (read depth for the SF3B1 exon/whole panel read depth for that sample) for exons 14, 15, and 16 of the SF3B1 gene is shown for BM DNA and cfDNA samples. SF3B1 exon 15 was overrepresented in cfDNA libraries when compared with BM libraries. *P ≤ .05; ****P ≤ .0001; ns, not significant.