Figure 4
Longitudinal analysis of peripheral samples for non-invasive detection of tumour profiles in MIBC. (A+B) Venn diagrams demonstrating that more SNVs (A) and CNAs (B) were detected in the urine, as compared to the plasma samples. The number of times SNVs or CNAs were detected in peripheral samples per time-point (where all three peripheral samples were collected) were depicted as Venn diagrams. 52 out of 56 SNVs and 12 out of 14 CNAs were detected in urinary samples. However for SNVs, 4 mutations/time-points were detected only in PLS, 2 in UCP and 13 in USN. For CNAs 2 mutations/time-points were detected only in PLS, 1 in UCP and 3 in USN, confirming that multiple sample analysis can improve mutDNA detection in MIBC. (C) Maximum mutDNA AF during NAC demonstrates differing kinetics in PLS, UCP and USN. Three plots depict the maximum SNV AF at each time-point in PLS, UCP and USN samples for 13 patients with detected SNVs. There are clear differences in the AF kinetics between the peripheral sample types. Generally levels are low in PLS while AFs rise and fall dynamically in urinary specimens. For most patients, mAFs are low during NAC, however, mAFs that were considerably higher than the 0.005 AF detection threshold were found in patients that recurred.
