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Germline PAX5 mutations and B cell leukemia

Nature Genetics volume 45, pages 1104–1105 (2013)Cite this article

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The transcription factor PAX5 is required for normal B cell development and is frequently mutated or deleted in B cell precursor acute lymphoblastic leukemia (B-ALL). A new study demonstrates that germline hypomorphic mutations of PAX5 are associated with susceptibility to B-ALL, implicating PAX5 in a growing list of hematopoietic transcription factors mutated in familial leukemia predisposition syndromes.

Normal blood development occurs in a hierarchical fashion, starting with a hematopoietic stem cell that differentiates into increasingly fate-restricted progenitor cells to give rise to mature blood cells. Each step in this process is regulated by critical transcription factors. Not surprisingly, alterations in these transcription factors are frequently associated with leukemia. PAX5 is a member of the PAX family of transcription factors and is required for normal B cell development. Somatic alterations of PAX5 are frequently found in individuals with B-ALL1,2. On page 1226 of this issue, Kenneth Offit and colleagues show that germline mutations in PAX5 are associated with susceptibility to B-ALL3. These results imply that PAX5 is involved in a new leukemia predisposition syndrome.

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Figure 1: PAX5 is a new inherited B-ALL predisposition gene.

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  1. Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA

    R Katherine Hyde & P Paul Liu

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  1. R Katherine Hyde
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  2. P Paul Liu
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Correspondence to P Paul Liu.

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The authors declare no competing financial interests.

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Hyde, R., Liu, P. Germline PAX5 mutations and B cell leukemia. Nat Genet 45, 1104–1105 (2013). https://doi.org/10.1038/ng.2778

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