Annals of Hematology

, Volume 87, Issue 10, pp 819–827

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
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
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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

Authors and Affiliations

  • Maria J. Carnicer
    • 1
  • Adriana Lasa
    • 1
  • Marcus Buschbeck
    • 2
  • Elena Serrano
    • 1
  • Maite Carricondo
    • 1
  • Salut Brunet
    • 1
  • Anna Aventin
    • 1
  • Jorge Sierra
    • 1
  • Luciano Di Croce
    • 2
    • 3
  • Josep F. Nomdedeu
    • 1
    • 4
  1. 1.Department of Hematology, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de BarcelonaBarcelonaSpain
  2. 2.Centre de Regulacio Genomica (CRG)Universitat Pompeu FabraBarcelonaSpain
  3. 3.ICREA and Centre de Regulacio Genomica (CRG)BarcelonaSpain
  4. 4.Laboratori d’Hematologia, Hospital de la Santa Creu i Sant PauUniversitat Autònoma de BarcelonaBarcelonaSpain