Case Report: Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia

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; Deborah L. White

doi:10.3390/genes14020264

Case Report: Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia

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, Deborah L. White

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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.

Original language	English
Article number	264
Number of pages	11
Journal	Genes
Volume	14
Issue number	2
DOIs	https://doi.org/10.3390/genes14020264
Publication status	Published - Feb 2023
Externally published	Yes

Keywords

case report
chromosomal abnormalities
congenital acute lymphoblastic leukemia
fusion gene
IKZF1 translocation
infant ALL
KMT2A-rearranged ALL
mRNA-sequencing

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3390/genes14020264Licence: CC BY

Final published versionFinal published version, 1.77 MBLicence: CC BY

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title = "Case Report: Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia",

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 = "case report, chromosomal abnormalities, congenital acute lymphoblastic leukemia, fusion gene, IKZF1 translocation, infant ALL, KMT2A-rearranged ALL, mRNA-sequencing",

author = "Eadie, {Laura N.} and Rehn, {Jacqueline A.} and James Breen and Osborn, {Michael P.} and Sophie Jessop and Downes, {Charlotte E.J.} and Heatley, {Susan L.} and McClure, {Barbara J.} and Yeung, {David T.} and Tamas Revesz and Benjamin Saxon and White, {Deborah L.}",

year = "2023",

month = feb,

doi = "10.3390/genes14020264",

language = "English",

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journal = "Genes",

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T2 - Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia

AU - Eadie, Laura N.

AU - Rehn, Jacqueline A.

AU - Breen, James

AU - Osborn, Michael P.

AU - Jessop, Sophie

AU - Downes, Charlotte E.J.

AU - Heatley, Susan L.

AU - McClure, Barbara J.

AU - Yeung, David T.

AU - Revesz, Tamas

AU - Saxon, Benjamin

AU - White, Deborah L.

PY - 2023/2

Y1 - 2023/2

N2 - 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.

AB - 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.

KW - case report

KW - chromosomal abnormalities

KW - congenital acute lymphoblastic leukemia

KW - fusion gene

KW - IKZF1 translocation

KW - infant ALL

KW - KMT2A-rearranged ALL

KW - mRNA-sequencing

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SN - 2073-4425

VL - 14

JO - Genes

JF - Genes

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M1 - 264

ER -

Case Report: Rare IKZF1 Gene Fusions Identified in Neonate with Congenital KMT2A-Rearranged Acute Lymphoblastic Leukemia

Abstract

Keywords

UN SDGs

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