Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia
2016 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 7, no 11790Article in journal (Refereed) PublishedText
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.
Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2016. Vol. 7, no 11790
IdentifiersURN: urn:nbn:se:liu:diva-130070DOI: 10.1038/ncomms11790ISI: 000377384300001PubMedID: 27265895OAI: oai:DiVA.org:liu-130070DiVA: diva2:946988
Funding Agencies|Swedish Cancer Society; Swedish Childhood Cancer Foundation; Swedish Research Council; Knut and Alice Wallenberg Foundation; Inga-Britt and Arne Lundberg Foundation; Gunnar Nilsson Cancer Foundation; Medical Faculty of Lund University; National Health Service2016-07-062016-07-062016-07-26