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No evidence for core-binding factor CBFβ as a leukemia predisposing factor in chromosome 16q22-linked familial AML

Leukemia volume 18, page 881 (2004)Cite this article

TO THE EDITOR

Acute myeloid leukemia (AML), as suggested by clinical data and murine leukemia models, arises through a multistep process involving more than one genetic alteration.1,2 Transcription factors (TFs) play an important role in this process as they frequently show recurrent, somatically acquired, chromosomal abnormalities (translocations and inversions) and point mutations.2,3 Familial cases of AML are best suited to define the initiating steps in leukemogenesis, and studies of familial AML have identified TF RUNX1 (AML1, CBFA2) as the first known familial leukemia susceptibility gene.4,5 Core-binding factor CBFβ is the cofactor of RUNX1, and both are essential for definitive hematopoiesis and are frequent fusion gene partners in chromosomal translocations in leukemia.2 Unlike RUNX1 that is also mutated in sporadic leukemia,2 no somatic point mutations in CBFβ were found using SSCP on DNA from 130 sporadic patients with AML or myelodysplastic syndromes.6 However, in two distinct pedigrees that showed autosomal dominant transmission of AML in three generations, linkage analysis excluded RUNX1 from being causative of the disease, but suggested a second locus for predisposition to leukemia on chromosome 16q22 between D16S451 and D16S515 where CBFβ is located.7,8

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Authors and Affiliations

  1. Genetics and Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia

    R Escher, J Michaud & H S Scott

  2. Department of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, IL, USA

    F Hagos, L Sveen & O I Olopade

  3. Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA

    M Horwitz

Authors
  1. R Escher
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  2. F Hagos
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  3. J Michaud
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  4. L Sveen
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  5. M Horwitz
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  6. O I Olopade
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  7. H S Scott
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Correspondence to H S Scott.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu).

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Escher, R., Hagos, F., Michaud, J. et al. No evidence for core-binding factor CBFβ as a leukemia predisposing factor in chromosome 16q22-linked familial AML. Leukemia 18, 881 (2004). https://doi.org/10.1038/sj.leu.2403308

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  • DOI: https://doi.org/10.1038/sj.leu.2403308

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