Clinical effect of point mutations in myelodysplastic syndromes.

ABSTRACT:

Background

Myelodysplastic syndromes are clinically heterogeneous disorders characterized by clonal hematopoiesis, impaired differentiation, peripheral-blood cytopenias, and a risk of progression to acute myeloid leukemia. Somatic mutations may influence the clinical phenotype but are not included in current prognostic scoring systems.

Methods

We used a combination of genomic approaches, including next-generation sequencing and mass spectrometry-based genotyping, to identify mutations in samples of bone marrow aspirate from 439 patients with myelodysplastic syndromes. We then examined whether the mutation status for each gene was associated with clinical variables, including specific cytopenias, the proportion of blasts, and overall survival.

Results

We identified som

SUBMITTER: Bejar R 

PROVIDER: S-EPMC3159042 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature