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, Cornelis J. H. Pronk, Mikael Behrendtz, Felix Mitelman, Bertil Johansson, Kajsa Paulsson, Anna K. Andersson, Magnus Fontes and Thoas Fioretos ()
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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
Kajsa Paulsson: Lund University
Anna K. Andersson: Lund University
Magnus Fontes: Centre for Mathematical Sciences, Lund University
Thoas Fioretos: Lund University

Nature Communications, 2016, vol. 7, issue 1, 1-13

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms11790

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