Change search
ReferencesLink to record
Permanent link

Direct link
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia
Lund University, Sweden.
Lund University, Sweden.
Lund University, Sweden.
Lund University, Sweden.
Show others and affiliations
2016 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 7, no 11790Article in journal (Refereed) PublishedText
Abstract [en]

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
National Category
Medical Genetics
URN: urn:nbn:se:liu:diva-130070DOI: 10.1038/ncomms11790ISI: 000377384300001PubMedID: 27265895OAI: 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 Service

Available from: 2016-07-06 Created: 2016-07-06 Last updated: 2016-07-26

Open Access in DiVA

fulltext(1388 kB)10 downloads
File information
File name FULLTEXT01.pdfFile size 1388 kBChecksum SHA-512
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Behrendtz, Mikael
By organisation
Division of Clinical SciencesDepartment of Paediatrics in LinköpingFaculty of Medicine and Health Sciences
In the same journal
Nature Communications
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 10 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 42 hits
ReferencesLink to record
Permanent link

Direct link