Annals of Hematology

, Volume 87, Issue 10, pp 819–827

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

Authors

  • Maria J. Carnicer
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Adriana Lasa
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Marcus Buschbeck
    • Centre de Regulacio Genomica (CRG)Universitat Pompeu Fabra
  • Elena Serrano
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Maite Carricondo
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Salut Brunet
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Anna Aventin
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Jorge Sierra
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
  • Luciano Di Croce
    • Centre de Regulacio Genomica (CRG)Universitat Pompeu Fabra
    • ICREA and Centre de Regulacio Genomica (CRG)
    • Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
    • Laboratori d’Hematologia, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de Barcelona
Original Article

DOI: 10.1007/s00277-008-0528-2

Cite this article as:
Carnicer, M.J., Lasa, A., Buschbeck, M. et al. Ann Hematol (2008) 87: 819. doi:10.1007/s00277-008-0528-2

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-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.

Keywords

CEBPAAcute myeloid leukemiaMutations

Supplementary material

277_2008_528_MOESM1_ESM.ppt (647 kb)
(DOC 662.5 KB).

Copyright information

© Springer-Verlag 2008