Figure 3.
Concordance between plasma cfDNA and tumor gDNA genotyping. The number of mutations in a given tumor discovered in plasma cfDNA and/or tumor gDNA in the training (A) and validation (D) DLBCL series (cases provided with paired plasma cfDNA and tumor biopsy gDNA are represented). Mutations are color coded if they were identified in both plasma cfDNA and tumor biopsy gDNA (red), only in plasma cfDNA (blue), or only in tumor biopsy gDNA (gray). A Venn diagram summarizes the overall number of mutations discovered in both plasma cfDNA and tumor biopsy gDNA (red), only in plasma cfDNA (blue), or only in tumor biopsy gDNA (gray) from the training (B) and validation (E) DLBCL series. The corresponding overall sensitivity of plasma cfDNA genotyping in discovering biopsy-confirmed mutations is shown. The fraction of tumor biopsy–confirmed mutations that were detected in plasma cfDNA in the training (C) and validation (F) DLBCL series is shown. Patients are ordered by decreasing detection rates. The training cohort included 2 patients (ID2 and ID14) who were not informative because they were devoid of mutations within the target region. The green portion of the bars indicates the prevalence of tumor biopsy–confirmed mutations that were detected in plasma cfDNA. The gray portion of the bars indicates the prevalence of tumor biopsy–confirmed mutations that were not detected in plasma cfDNA.