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Recurrent in-frame insertion in C/EBPα TAD2 region is a polymorphism without prognostic value in AML

Leukemia volume 22, pages 655–657 (2008)Cite this article

CCAAT/enhancer-binding protein-α (C/EBPα) is a transcription factor strongly implicated in hematopoiesis through control of proliferation and differentiation of myeloid progenitors. Disruption of C/EBPα results in selective early block of granulocyte maturation, without affecting other hematopoietic lineages.1

In patients with acute myeloid leukemia, the normal function of C/EBPα can be modified by interaction with other oncogenic proteins (like those resulting from inv(16)(p13;q22))2 or more often, by mutations (in about 8% of cases).3 Those mutations are generally in-frame mutations in the C-terminal region or out-of-frame mutation in the N-terminal region, resulting in loss of C/EBPα function.3

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Authors and Affiliations

  1. INSERM U837 and CBP-CHRU Lille, France and North-West Canceropôle, Lille, France

    V Biggio, A Renneville, O Nibourel, N Philippe, L Terriou, C Roumier & C Preudhomme

  2. INSERM U744, Institut Pasteur de Lille, Lille, France

    P Amouyel & D Cottel

  3. Département d'Hématologie, Hôpital André Mignot, Versailles, France

    S Castaigne

  4. Département d'Hématologie, APHP, Paris, France

    H Dombret

  5. Département d'Hématologie, Hôpital E Herriot, Lyon, France

    X Thomas

  6. Département d'Hématologie, Hôpital Avicenne, Bobigny, France

    P Fenaux

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  1. V Biggio
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  2. A Renneville
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  3. O Nibourel
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  8. D Cottel
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  10. H Dombret
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  11. X Thomas
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  12. P Fenaux
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  13. C Preudhomme
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A study from the French alfa group

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Correspondence to C Preudhomme.

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Biggio, V., Renneville, A., Nibourel, O. et al. Recurrent in-frame insertion in C/EBPα TAD2 region is a polymorphism without prognostic value in AML. Leukemia 22, 655–657 (2008). https://doi.org/10.1038/sj.leu.2404926

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  • DOI: https://doi.org/10.1038/sj.leu.2404926

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