Article
Acute myeloid leukemia with deletion 9q within a noncomplex karyotype is associated with CEBPA loss-of-function mutations.
Genes, chromosomes & cancer - 1 Apr 2005
Fröhling Stefan, Schlenk Richard F, Krauter Jürgen, Thiede Christian, Ehninger Gerhard, Haase Detlef, Harder Lana, Kreitmeier Sylvia, Scholl Claudia, Caligiuri Michael A, Bloomfield Clara D, Döhner Hartmut, Döhner Konstanze
Abstract excerpt
To assess the prevalence of mutations in the CEBPA gene, which encodes the myeloid transcription factor CEBPA in specific cytogenetic subgroups, we initially studied 125 patients with acute myeloid leukemia (AML). Five of the eight patients with del(9q) as the sole aberration or in combination with a single additional abnormality other than t(8;21) had CEBPA mutations associated with loss of CEBPA function....
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