K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML)

Maria J. Carnicer, Adriana Lasa, Marcus Buschbeck, Elena Serrano, Maite Carricondo, Salut Brunet, Anna Aventin, Jorge Sierra, Luciano Di Croce, Josep F. Nomdedeu

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5 Citations (Scopus)


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-γ) 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. © Springer-Verlag 2008.
Original languageEnglish
Pages (from-to)819-827
JournalAnnals of Hematology
Issue number10
Publication statusPublished - 30 Jun 2008


  • Acute myeloid leukemia
  • Mutations


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