Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/137750
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Type: | Journal article |
Title: | Case Report: Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia |
Author: | Eadie, L.N. Rehn, J.A. Breen, J. Osborn, M.P. Jessop, S. Downes, C.E.J. Heatley, S.L. McClure, B.J. Yeung, D.T. Revesz, T. Saxon, B. White, D.L. |
Citation: | Genes, 2023; 14(2):264-1-264-11 |
Publisher: | MDPI AG |
Issue Date: | 2023 |
ISSN: | 2073-4425 2073-4425 |
Statement of Responsibility: | Laura N. Eadie, Jacqueline A. Rehn, James Breen, Michael P. Osborn, Sophie Jessop, Charlotte E. J. Downes, Susan L. Heatley, Barbara J. McClure, David T. Yeung, Tamas Revesz, Benjamin Saxon and Deborah L. White |
Abstract: | Chromosomal rearrangements involving the KMT2A gene occur frequently in acute lymphoblastic leukaemia (ALL). KMT2A-rearranged ALL (KMT2Ar ALL) has poor long-term survival rates and is the most common ALL subtype in infants less than 1 year of age. KMT2Ar ALL frequently occurs with additional chromosomal abnormalities including disruption of the IKZF1 gene, usually by exon deletion. Typically, KMT2Ar ALL in infants is accompanied by a limited number of cooperative le-sions. Here we report a case of aggressive infant KMT2Ar ALL harbouring additional rare IKZF1 gene fusions. Comprehensive genomic and transcriptomic analyses were performed on sequential samples. This report highlights the genomic complexity of this particular disease and describes the novel gene fusions IKZF1::TUT1 and KDM2A::IKZF1. |
Keywords: | congenital acute lymphoblastic leukemia; infant ALL; KMT2A-rearranged ALL; case report; chromosomal abnormalities; fusion gene; IKZF1 translocation; mRNA-sequencing |
Description: | Published: 19 January 2023 |
Rights: | © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). |
DOI: | 10.3390/genes14020264 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1146253 http://purl.org/au-research/grants/nhmrc/1160833 |
Published version: | http://dx.doi.org/10.3390/genes14020264 |
Appears in Collections: | Medicine publications |
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hdl_137750.pdf | Published version | 1.35 MB | Adobe PDF | View/Open |
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