Clinical utility of a novel triplex digital PCR assay for clone monitoring in sequential and relapsed pediatric B-cell acute lymphoblastic leukemia patients

Abstract Introduction: Digital PCR studies for clonal disease monitoring in B-ALL patients are currently limited due to the heterogeneous nature of mutations, which limitscost-effective assay designs. Materials and Methods: In the “DETECTOR study”, 70 samples (14 relapse and 56 sequential therapy samples) were tested for 13 mutations in the KRAS, NRAS, NT5C2, PMS2, UHRF1, KMT2D and TP53 genes via a novel triplex digital PCR assay. The results 37%) of our patients,driving 50% of very early-early relapses, thereby highlighting its utility for clonal monitoring in LMIC regions.