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

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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.

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Acknowledgment

We appreciate the comments and suggestions of the WP12 (minimal residual disease) members of the European Leukemia Net. This study was supported by a grant from the Fondo de Investigaciones Sanitarias (FIS) 03/1079 to J.F.N., from the Fundació “Marató TV3” to L.D.C., and from the Spanish-MEC (BFU2007-63059/BMC). M.B. is supported by a postdoctoral research fellowship from the Deutsche Forschungsgesellschaft (DFG).

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Correspondence to Josep F. Nomdedeu.

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Carnicer, M.J., Lasa, A., Buschbeck, M. et al. K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML). Ann Hematol 87, 819–827 (2008). https://doi.org/10.1007/s00277-008-0528-2

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