DNMT3A mutations in acute myeloid leukemia.

ABSTRACT:

Background

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

Methods

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.

Results

A total of 62 of 281 patients (22.1%) had mutations in DNMT3A that were predicted to affect translation. We identified 18 different missense mutations, the most common of which was predicted to affect amino acid R882 (in 37 patients). We also identified six frameshift, six nonsense, and three splice-site mutations and a 1.5-Mbp

SUBMITTER: Ley TJ 

PROVIDER: S-EPMC3201818 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature