Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia
Lilljebjörn, Henrik LU
; Henningsson, Rasmus
LU
; Hyrenius-Wittsten, Axel
LU
; Olsson, Linda
LU
; Orsmark-Pietras, Christina
LU
; Von Palffy, Sofia
LU
; Askmyr, Maria
LU
; Rissler, Marianne
LU
; Schrappe, Martin
and Cario, Gunnar
, et al.
(2016)
In Nature Communications
7.
- 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... (More)
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.
(Less)
- author
- Lilljebjörn, Henrik
LU
; Henningsson, Rasmus
LU
; Hyrenius-Wittsten, Axel
LU
; Olsson, Linda
LU
; Orsmark-Pietras, Christina
LU
; Von Palffy, Sofia
LU
; Askmyr, Maria
LU
; Rissler, Marianne
LU
; Schrappe, Martin
and Cario, Gunnar
, et al. (More)
- Lilljebjörn, Henrik
LU
; Henningsson, Rasmus
LU
; Hyrenius-Wittsten, Axel
LU
; Olsson, Linda
LU
; Orsmark-Pietras, Christina
LU
; Von Palffy, Sofia
LU
; Askmyr, Maria
LU
; Rissler, Marianne
LU
; Schrappe, Martin
; Cario, Gunnar
; Castor, Anders
LU
; Pronk, Kees-Jan
LU
; Behrendtz, Mikael
; Mitelman, Felix
LU
; Johansson, Bertil
LU
; Paulsson, Kajsa
LU
; Andersson, Anna K.
LU
; Fontes, Magnus
LU
and Fioretos, Thoas
LU
(Less)
- organization
-
- The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy (research group)
- Aneuploidy in cancer (research group)
- Translational Genomic and Functional Studies of Leukemia (research group)
- Division of Clinical Genetics
- Mathematics (Faculty of Engineering)
- Paediatrics (Lund)
- Hematopoietic and immunologic developement (research group)
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
- Division of Molecular Hematology (DMH)
- publishing date
- 2016-06-06
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Communications
- volume
- 7
- article number
- 11790
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:84973305001
- pmid:27265895
- wos:000377384300001
- ISSN
- 2041-1723
- DOI
- 10.1038/ncomms11790
- language
- English
- LU publication?
- yes
- id
- cdebe513-84d8-4521-8317-8265a856617a
- date added to LUP
- 2016-06-22 10:40:44
- date last changed
- 2024-06-14 09:47:01
@article{cdebe513-84d8-4521-8317-8265a856617a,
abstract = {{<p>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.</p>}},
author = {{Lilljebjörn, Henrik and Henningsson, Rasmus and Hyrenius-Wittsten, Axel and Olsson, Linda and Orsmark-Pietras, Christina and Von Palffy, Sofia and Askmyr, Maria and Rissler, Marianne and Schrappe, Martin and Cario, Gunnar and Castor, Anders and Pronk, Kees-Jan and Behrendtz, Mikael and Mitelman, Felix and Johansson, Bertil and Paulsson, Kajsa and Andersson, Anna K. and Fontes, Magnus and Fioretos, Thoas}},
issn = {{2041-1723}},
language = {{eng}},
month = {{06}},
publisher = {{Nature Publishing Group}},
series = {{Nature Communications}},
title = {{Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia}},
url = {{http://dx.doi.org/10.1038/ncomms11790}},
doi = {{10.1038/ncomms11790}},
volume = {{7}},
year = {{2016}},
}