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Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia

Author

Listed:
  • Henrik Lilljebjörn

    (Lund University)

  • Rasmus Henningsson

    (Centre for Mathematical Sciences, Lund University)

  • Axel Hyrenius-Wittsten

    (Lund University)

  • Linda Olsson

    (Lund University)

  • Christina Orsmark-Pietras

    (Lund University)

  • Sofia von Palffy

    (Lund University)

  • Maria Askmyr

    (Lund University)

  • Marianne Rissler

    (Lund University)

  • Martin Schrappe

    (University Hospital Schleswig-Holstein)

  • Gunnar Cario

    (University Hospital Schleswig-Holstein)

  • Anders Castor

    (Skåne University Hospital, Lund University)

  • Cornelis J. H. Pronk

    (Skåne University Hospital, Lund University)

  • Mikael Behrendtz

    (Linköping University Hospital)

  • Felix Mitelman

    (Lund University)

  • Bertil Johansson

    (Lund University
    University and Regional Laboratories Region Skåne)

  • Kajsa Paulsson

    (Lund University)

  • Anna K. Andersson

    (Lund University)

  • Magnus Fontes

    (Centre for Mathematical Sciences, Lund University)

  • Thoas Fioretos

    (Lund University
    University and Regional Laboratories Region Skåne)

Abstract

Fusion genes are potent driver mutations in cancer. In this study, we delineate the fusion gene landscape in a consecutive series of 195 paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL). Using RNA sequencing, we find in-frame fusion genes in 127 (65%) cases, including 27 novel fusions. We describe a subtype characterized by recurrent IGH-DUX4 or ERG-DUX4 fusions, representing 4% of cases, leading to overexpression of DUX4 and frequently co-occurring with intragenic ERG deletions. Furthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations. Thus, this study provides a detailed overview of fusion genes in paediatric BCP ALL and adds new pathogenetic insights, which may improve risk stratification and provide therapeutic options for this disease.

Suggested Citation

  • Henrik Lilljebjörn & Rasmus Henningsson & Axel Hyrenius-Wittsten & Linda Olsson & Christina Orsmark-Pietras & Sofia von Palffy & Maria Askmyr & Marianne Rissler & Martin Schrappe & Gunnar Cario & Ande, 2016. "Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia," Nature Communications, Nature, vol. 7(1), pages 1-13, September.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms11790
    DOI: 10.1038/ncomms11790
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