IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis.

ABSTRACT:

Background

Myelodysplastic syndromes are a heterogeneous group of hematopoietic stem cell disorders with a high propensity to transform into acute myeloid leukemia. Heterozygous missense mutations in IDH1 at position R132 and in IDH2 at positions R140 and R172 have recently been reported in acute myeloid leukemia. However, little is known about the incidence and prognostic impact of IDH1 and IDH2 mutations in myelodysplastic syndromes.

Design and methods

We examined 193 patients with myelodysplastic syndromes and 53 patients with acute myeloid leukemia arising from myelodysplastic syndromes for mutations in IDH1 (R132), IDH2 (R172 and R140), and NPM1 by direct sequencing.

Results

We found that mutations in IDH1 occurred with a frequency of 3.6% in myelodysplastic synd

SUBMITTER: Thol F 

PROVIDER: S-EPMC2948091 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature