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X-Linked Agammaglobulinemia Associated with B-Precursor Acute Lymphoblastic Leukemia

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Abstract

X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cells and diminished levels of serum immunoglobulins, and caused by a mutation in the Bruton’s tyrosine kinase (BTK) gene, which play a pivotal role in signal transduction of pre-B-cell receptor (BCR) and BCR. B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common malignancy in children, and it may be associated with gene alterations that regulate B-cell development. Here we described a first case of XLA associated BCP-ALL. The whole-exome sequencing revealed a somatic mutation in MLL2 in the sample from the onset of BCP-ALL. This study suggests that the alterations of BTK and MLL2 synergistically function as leukemogenesis.

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Acknowledgments

This study was supported by grants from the Ministry of Health, Labour, Welfare of Japan. We thank Chikako Sakai and Hitoshi Moriuchi for their excellent technical assistance. This study is dedicated to the late Dr. Toshio Miyawaki.

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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan

    Akihiro Hoshino, Xi Yang & Yuichi Adachi

  2. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Yusuke Okuno & Seiji Kojima

  3. Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan

    Masahiro Migita & Hideki Ban

  4. Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan

    Nobutaka Kiyokawa

  5. Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan

    Osamu Ohara

  6. Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan

    Hirokazu Kanegane

Authors
  1. Akihiro Hoshino
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  2. Yusuke Okuno
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  3. Masahiro Migita
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  4. Hideki Ban
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  5. Xi Yang
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  6. Nobutaka Kiyokawa
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  7. Yuichi Adachi
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  8. Seiji Kojima
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  9. Osamu Ohara
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  10. Hirokazu Kanegane
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Corresponding author

Correspondence to Hirokazu Kanegane.

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Hoshino, A., Okuno, Y., Migita, M. et al. X-Linked Agammaglobulinemia Associated with B-Precursor Acute Lymphoblastic Leukemia. J Clin Immunol 35, 108–111 (2015). https://doi.org/10.1007/s10875-015-0127-7

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  • DOI: https://doi.org/10.1007/s10875-015-0127-7

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