Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/111892
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Type: Journal article
Title: Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression
Author: McClure, B.
Heatley, S.
Kok, C.
Sadras, T.
An, J.
Hughes, T.
Lock, R.
Yeung, D.
Sutton, R.
White, D.
Citation: British Journal of Cancer, 2018; 118(7):1000-1004
Publisher: Nature Publishing Group
Issue Date: 2018
ISSN: 0007-0920
1532-1827
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Responsibility: 
Barbara J. McClure, Susan L. Heatley, Chung H Kok, Teresa Sadras, Jiyuan An, Timothy P. Hughes, Richard B. Lock, David Yeung, Rosemary Sutton and Deborah L White
Abstract: BACKGROUND: Zinc-finger protein 384 (ZNF384) fusions are an emerging subtype of precursor B-cell acute lymphoblastic leukaemia (pre-B-ALL) and here we further characterised their prevalence, survival outcomes and transcriptome. METHODS: Bone marrow mononuclear cells from 274 BCR-ABL1-negative pre-B-ALL patients were immunophenotyped and transcriptome molecularly characterised. Transcriptomic data was analysed by principal component analysis and gene-set enrichment analysis to identify gene and pathway expression changes. RESULTS: We exclusively detect E1A-associated protein p300 (EP300)-ZNF384 in 5.7% of BCR-ABL1-negative adolescent/young adult (AYA)/adult pre-B-ALL patients. EP300-ZNF384 patients do not appear to be a high-risk subgroup. Transcriptomic analysis revealed that EP300-ZNF384 samples have a distinct gene expression profile that results in the up-regulation of Janus kinase/signal transducers and activators of transcription (JAK/STAT) and cell adhesion pathways and down-regulation of cell cycle and DNA repair pathways. CONCLUSIONS: Importantly, this report contributes to a better overview of the incidence of EP300-ZNF384 patients and show that they have a distinct gene signature with concurrent up-regulation of JAK-STAT pathway, reduced expression of B-cell regulators and reduced DNA repair capacity.
Keywords: Humans; Recurrence; Trans-Activators; Oncogene Proteins, Fusion; Survival Analysis; Gene Expression Profiling; Signal Transduction; Gene Expression Regulation, Leukemic; Gene Frequency; Genes, abl; Adolescent; Adult; Child; Female; Male; STAT Transcription Factors; E1A-Associated p300 Protein; Janus Kinases; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Young Adult; Transcriptome
Rights: © Cancer Research UK 2018
RMID: 0030083729
DOI: 10.1038/s41416-018-0022-0
Grant ID: http://purl.org/au-research/grants/nhmrc/1057746
http://purl.org/au-research/grants/nhmrc/1044884
Appears in Collections:Medicine publications

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