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

Nat Genet. 2016 May;48(5):569-74. doi: 10.1038/ng.3535. Epub 2016 Mar 28.

Abstract

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.

Publication types

  • Comment

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Animals
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Gene Fusion*
  • HEK293 Cells
  • Homeodomain Proteins / genetics*
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Infant
  • Infant, Newborn
  • MEF2 Transcription Factors / genetics
  • Male
  • Mice
  • Middle Aged
  • NIH 3T3 Cells
  • Oncogene Proteins, Fusion
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • RNA, Neoplasm
  • Sequence Analysis, RNA
  • Trans-Activators / genetics
  • Young Adult

Substances

  • DUX4L1 protein, human
  • Homeodomain Proteins
  • Immunoglobulin Heavy Chains
  • MEF2 Transcription Factors
  • MEF2D protein, human
  • Oncogene Proteins, Fusion
  • RNA, Neoplasm
  • Trans-Activators
  • ZNF384 protein, human