Fig. 3: QBDA for mutation detection during AML complete remission.

a–e Changes of mutation VAF and the percentage of blasts in bone marrow from diagnosis to complete remission for each of the five patients. The mutations in NPM1 were highlighted in red and mutations in DTA (i.e., DNMT3A, TET2, and ASXL1) were highlighted in blue. Other mutations were shown in gray. f Summary of mutations detected from five patients during remission using the QBDA AML panel covering 22 hotspot regions in 20 genes. g Swimmer plot of clinical course and molecular findings of patients. QBDA identified NPM1 mutation in patient 1 during remission while flow cytometry reported MRD negative and conventional NGS failed to detect NPM1 mutation at the same time point. This NPM1 mutation was observed by conventional NGS during relapse. QBDA did not observe NPM1 mutation in patient 2 while MRD positive is reported by flow cytometry. In the two subsequent time points even after relapse NMP1 mutation was still not observed. Instead, de novo mutations in KDM6A and PHF6 were identified indicating clonal evolution occurred as alternative cause of relapse.