DNMT3A Mutations in Acute Myeloid Leukemia

The genetic alterations responsible for an adverse outcome in most patients with acute myeloid leukemia (AML) are unknown.

Using massively parallel DNA sequencing, we identified a somatic mutation in DNMT3A, encoding a DNA methyltransferase, in the genome of cells from a patient with AML with a normal karyotype. We sequenced the exons of DNMT3A in 280 additional patients with de novo AML to define recurring mutations.