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Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia

Leukemia volume 19, pages 1276–1278 (2005)Cite this article

TO THE EDITOR

A family has recently been described in whom three members affected by acute myeloid leukaemia (AML) carried germline heterozygous mutations in CCAAT enhancer-binding protein-alpha (CEBPA), the gene encoding the granulocyte differentiation factor C/EBPα.1 The transcription factor C/EBPα is a key regulator of early myeloid differentiation, regulating a number of granulocyte-specific genes and inducing granulocytic development of bipotential myeloid progenitors by activation of target gene promoters.2 C/EBPα consists of N-terminal transactivating domains (TAD1 and TAD2) and a C-terminal basic and leucine-zipper region necessary for specific DNA sequence binding and homo- or heterodimerization, respectively.2 Here, we report the clinical and molecular features of a second family in which a germline mutation in CEPBA caused AML.

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Acknowledgements

We are grateful to the family who participated in this study. This work was supported by grants from the Leukaemia Research Fund (GSS, RSH and DC) and Cancer Research UK (KP-J, and RSH).

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Authors and Affiliations

  1. Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK

    G S Sellick, H E Spendlove & R S Houlston

  2. Section of Haemato-Oncology, Institute of Cancer Research, Sutton, Surrey, UK

    D Catovsky

  3. Section of Pediatrics, Institute of Cancer Research, Sutton, Surrey, UK

    K Pritchard-Jones

Authors
  1. G S Sellick
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  2. H E Spendlove
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  3. D Catovsky
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  4. K Pritchard-Jones
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  5. R S Houlston
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Correspondence to R S Houlston.

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Sellick, G., Spendlove, H., Catovsky, D. et al. Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia 19, 1276–1278 (2005). https://doi.org/10.1038/sj.leu.2403788

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