title: Acute myeloid leukemia with deletion 9q within a noncomplex karyotype is associated with CEBPA loss-of-function mutations.
abstract: 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. Consequently, 41 additional del(9q) cases were analyzed; nine had CEBPA loss-of-function mutations. The overall prevalence of CEBPA loss-of-function mutations in cases with del(9q) in a noncomplex karyotype was 41% (14 of 34 patients), whereas none of the patients who had a del(9q) in a complex karyotype (n = 7) or together with a t(8;21) (n = 10) demonstrated mutant CEBPA. We have shown for the first time that AML with del(9q) in the context of a noncomplex karyotype is strongly associated with CEBPA loss-of-function mutations. Loss of a critical segment of 9q, most likely in 9q22, and disruption of CEBPA function possibly cooperate in the pathogenesis of del(9q) AML.
authors.affiliation: Department of Internal Medicine III, University Hospital of Ulm, Robert-Koch-Strasse 8, 89081 Ulm, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Fröhling
authors.forename: Richard F
authors.initials: RF
authors.lastname: Schlenk
authors.forename: Jürgen
authors.initials: J
authors.lastname: Krauter
authors.forename: Christian
authors.initials: C
authors.lastname: Thiede
authors.forename: Gerhard
authors.initials: G
authors.lastname: Ehninger
authors.forename: Detlef
authors.initials: D
authors.lastname: Haase
authors.forename: Lana
authors.initials: L
authors.lastname: Harder
authors.forename: Sylvia
authors.initials: S
authors.lastname: Kreitmeier
authors.forename: Claudia
authors.initials: C
authors.lastname: Scholl
authors.forename: Michael A
authors.initials: MA
authors.lastname: Caligiuri
authors.forename: Clara D
authors.initials: CD
authors.lastname: Bloomfield
authors.forename: Hartmut
authors.initials: H
authors.lastname: Döhner
authors.forename: Konstanze
authors.initials: K
authors.lastname: Döhner
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D015331:Cohort Studies; D017931:DNA Primers; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D014157:Transcription Factors