Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults

書誌事項

公開日
2016-03-28
資源種別
journal article
権利情報
  • http://www.springer.com/tdm
  • http://www.springer.com/tdm
DOI
  • 10.1038/ng.3535
公開者
Springer Science and Business Media LLC

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説明

The oncogenic mechanisms underlying acute lymphoblastic leukemia (ALL) in adolescents and young adults (AYA; 15-39 years old) remain largely elusive. Here we have searched for new oncogenes in AYA-ALL by performing RNA-seq analysis of Philadelphia chromosome (Ph)-negative AYA-ALL specimens (n = 73) with the use of a next-generation sequencer. Interestingly, insertion of D4Z4 repeats containing the DUX4 gene into the IGH locus was frequently identified in B cell AYA-ALL, leading to a high level of expression of DUX4 protein with an aberrant C terminus. A transplantation assay in mice demonstrated that expression of DUX4-IGH in pro-B cells was capable of generating B cell leukemia in vivo. DUX4 fusions were preferentially detected in the AYA generation. Our data thus show that DUX4 can become an oncogenic driver as a result of somatic chromosomal rearrangements and that AYA-ALL may be a clinical entity distinct from ALL at other ages.

収録刊行物

  • Nature Genetics

    Nature Genetics 48 (5), 569-574, 2016-03-28

    Springer Science and Business Media LLC

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