Recurrent C>T mutations in genes implicated in age-related clonal hematopoiesis (ARCH). (A) DNMT3A mutations were detected in MBD4-deficient patients at time of disease (leukemic phase) or remission (remission phase). EMC-AML-1 had additional DNMT3A mutations that were detected through sequencing of bulk DNA, SCDCs obtained from diagnostic bone marrow, and SCDCs from autologous stem cells collected during complete remission. The majority of the DNMT3A mutations had been detected in healthy individuals with ARCH. Additional point mutations were identified in remission material from EMC-AML-1, in TP53 (B), ASXL1 (C), and TET2 (D). A more detailed phylogenetic tree is provided in supplemental Figure 8.