title: K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML).
abstract: The CEBPA gene codes for a transcription factor that has a pivotal role in controlling proliferation and differentiation of myeloid progenitors. Acquired CEBPA mutations have been found in acute myeloid leukemias (AML) with a good prognosis, and most of these patients have a normal karyotype. In this paper, we report four cases that displayed the same K313dup in the CEBPA gene. All four had an AML-M1 with CD7 positivity and T-cell receptor gamma chain (TCR-gamma) rearrangement. This mutation could represent nearly 10% of all CEBPA mutations described to date. K313dup disappeared in samples from patients in complete remission. In transfected cells, the K313dup mutant had reduced protein stability with respect to the wild-type protein. K313dup seems to be selected in leukemic cells, and its frequency in other AML series could be determined using the screening method reported in this paper.
authors.affiliation: Department of Hematology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Carnicer
authors.forename: Adriana
authors.initials: A
authors.lastname: Lasa
authors.forename: Marcus
authors.initials: M
authors.lastname: Buschbeck
authors.forename: Elena
authors.initials: E
authors.lastname: Serrano
authors.forename: Maite
authors.initials: M
authors.lastname: Carricondo
authors.forename: Salut
authors.initials: S
authors.lastname: Brunet
authors.forename: Anna
authors.initials: A
authors.lastname: Aventin
authors.forename: Jorge
authors.initials: J
authors.lastname: Sierra
authors.forename: Luciano
authors.initials: L
authors.lastname: Di Croce
authors.forename: Josep F
authors.initials: JF
authors.lastname: Nomdedeu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics / Q000378:metabolism
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; D016692:Receptors, Antigen, T-Cell, gamma-delta