Figure 4.
Clinical and genomic associations of molecular remission states. (A) Co-occurrence of nongenetic factors and specific persistent mutations for the 192 individuals in the remission cohort, grouped by type of molecular measurable residual disease (MRD). Patients who cleared all diagnostic mutations and patients with only persistent DNMT3A or TET2 mutations (together considered MRD negative) are in the left and middle respectively, and patients with other persistent mutations (MRD positive) are on the right. Remission DNMT3A, TET2, and ASXL1 mutations are shown at the top, with other classes of remission mutations shown next. Diagnostic genetic variables associated with molecular remission states are listed next, including DDX41 mutations (shown in gold) and molecular ontogeny (de novo in gray, secondary in blue, and TP53 in green). Patients who relapsed are shown in black and those who died are in red. (B) Distribution and co-occurrence of treatment-emergent mutations in patients with different patterns of molecular persistence. Patients who cleared all diagnostic mutations and patients with only persistent DNMT3A or TET2 mutations are in the left and middle, respectively, whereas patients with MRD-positive remissions are on the right.