Fig. 5: Tiered multiplexed ddPCR can detect disease-defining somatic fusions from multiple tissue types.
From: Rapid and highly sensitive approach for multiplexed somatic fusion detection
A Schematic depicting (left) the theoretical applications for which tiered multiplex ddPCR could be applied in order to detect cancer cells harboring pathognomonic somatic fusions. Although ddPCR probe and panel sets are restricted to the detection of 11 targeted fusion partner genes (far right of this panel), the pre-amplification step could be developed with primers targeting up to one hundred fusion partners (middle), creating an amplicon reservoir that could be tested with multiple ddPCR primer and probe sets. B ddPCR plots demonstrating the expected fluorescence pattern for each expected translocation detected from donor blood samples spiked with the indicated cancer cell line at a concentration of 2 cells per mL of blood. As a control, the experiment was also conducted with a blood sample from a patient treated for osteosarcoma that does not express a fusion targeted by our primer and probe ddPCR panel. C Tiered multiplexed ddPCR detects evidence CTCs from liquid biopsy samples collected from patients with EWS and fusion positive RMS.
