More recently, mutations in DNMT3A, but not NPM1, were identified in pre-leukaemic HSCs from patients with double DNMT3A/NPM1 mutant AML, further supporting the leukaemia-initiating pedigree of mutant DNMT3A (Shlush et al., 2014). The gene discussed is DNMT3A; the disease is acute myeloid leukemia.