Mentor Name: Brian Crompton

A lung tumor found mostly in children, pleuropulmonary blastoma (PPB) is linked to defects in the DICER1 gene. These defects involve a loss of function variant in one allele through many possible means, followed by a different loss of function mutation in the second allele involving a small number of hotspot variants. As these hotspot locations are limited, they make for a very good target to detect DICER1 related tumor DNA using less-invasive methods such as liquid biopsy. Digital polymerase chain reaction (dPCR) can detect mutations with high sensitivity and specificity, making it ideal for low abundance targets such as circulating tumor DNA (ctDNA) found in plasma. This makes dPCR a promising approach for detecting treatment response, minimal residual disease (MRD) and early relapse detection.