Although convincing evidence of recurrent mutation of GATA2 was not originally found in sporadic AML, it was first noted more than 10 years ago, that the distal 5′ regulatory elements of GATA2, were involved in chromosome 3q21 rearrangements and that dysregulation of GATA2 expression might contribute to leukaemogenesis (Zhou et al, 1998; Wieser et al, 2000). The gene discussed is GATA2; the disease is acute myeloid leukemia.