Recurring mutations found by sequencing an acute myeloid leukemia genome.

ABSTRACT:

Background

The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known.

Methods

We used massively parallel DNA sequencing to obtain a very high level of coverage (approximately 98%) of a primary, cytogenetically normal, de novo genome for AML with minimal maturation (AML-M1) and a matched normal skin genome.

Results

We identified 12 acquired (somatic) mutations within the coding sequences of genes and 52 somatic point mutations in conserved or regulatory portions of the genome. All mutations appeared to be heterozygous and present in nearly all cells in the tumor sample. Four of the 64 mutations occurred in at least 1 additional AML sample in 188 samples that were tested. Mutations in NRAS and NPM1 ha

SUBMITTER: Mardis ER 

PROVIDER: S-EPMC3201812 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature