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

  • Henrik Lilljebjörn
  • Rasmus Henningsson
  • Axel Hyrenius-Wittsten
  • Linda Olsson
  • Christina Orsmark-Pietras
  • Sofia Von Palffy
  • Maria Askmyr
  • Marianne Rissler
  • Martin Schrappe
  • Gunnar Cario
  • Anders Castor
  • Kees-Jan Pronk
  • Mikael Behrendtz
  • Felix Mitelman
  • Bertil Johansson
  • Kajsa Paulsson
  • Anna K. Andersson
  • Magnus Fontes
  • Thoas Fioretos
Publishing year: 2016-06-06
Language: English
Publication/Series: Nature Communications
Volume: 7
Document type: Journal article
Publisher: Nature Publishing Group

Abstract english

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.


  • Medical Genetics


  • Hematopoietic and immunologic developement
  • The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy
  • Aneuploidy in cancer
  • Translational Genomic and Functional Studies of Leukemia
  • ISSN: 2041-1723
Thoas Fioretos
E-mail: thoas [dot] fioretos [at] med [dot] lu [dot] se

Research team manager

Translational Genomic and Functional Studies of Leukemia

+46 46 222 45 95

+46 70 334 33 67



Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67