Identification of a novel GOLGA4–JAK2 fusion gene in B-cell acute lymphoblastic leukaemia

Charlotte E. J. Downes; Jacqueline Rehn; Susan L. Heatley; David Yeung; Barbara J. McClure; Deborah L. White

doi:10.1111/bjh.17910

Identification of a novel GOLGA4–JAK2 fusion gene in B-cell acute lymphoblastic leukaemia

Charlotte E. J. Downes, Jacqueline Rehn, Susan L. Heatley, David Yeung, Barbara J. McClure, Deborah L. White

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

Rearrangements of Janus kinase 2 (JAK2r) form a subtype of acute lymphoblastic leukaemia (ALL) associated with poor patient outcomes. We present a high-risk case of B-cell ALL (B-ALL) where retrospective mRNA sequencing identified a novel GOLGA4–JAK2 fusion gene. Expression of GOLGA4–JAK2 in murine pro-B cells promoted factor-independent growth, implicating GOLGA4–JAK2 as an oncogenic driver. Cells expressing GOLGA4–JAK2 demonstrated constitutive activation of JAK/STAT signalling and were sensitive to JAK inhibitors. This study contributes to the diverse collection of JAK2 fusion genes identified in B-ALL and supports the incorporation of JAK inhibitors into treatment strategies to improve outcomes for this subtype.

Original language	English
Pages (from-to)	700-705
Number of pages	6
Journal	British Journal of Haematology
Volume	196
Issue number	3
Early online date	25 Oct 2021
DOIs	https://doi.org/10.1111/bjh.17910
Publication status	Published - Feb 2022
Externally published	Yes

Keywords

acute leukaemia
tyrosine kinases
chromosomal
rearrangements
gene fusion
JAK2
targeted therapy

UN SDGs

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

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title = "Identification of a novel GOLGA4–JAK2 fusion gene in B-cell acute lymphoblastic leukaemia",

abstract = "Rearrangements of Janus kinase 2 (JAK2r) form a subtype of acute lymphoblastic leukaemia (ALL) associated with poor patient outcomes. We present a high-risk case of B-cell ALL (B-ALL) where retrospective mRNA sequencing identified a novel GOLGA4–JAK2 fusion gene. Expression of GOLGA4–JAK2 in murine pro-B cells promoted factor-independent growth, implicating GOLGA4–JAK2 as an oncogenic driver. Cells expressing GOLGA4–JAK2 demonstrated constitutive activation of JAK/STAT signalling and were sensitive to JAK inhibitors. This study contributes to the diverse collection of JAK2 fusion genes identified in B-ALL and supports the incorporation of JAK inhibitors into treatment strategies to improve outcomes for this subtype.",

keywords = "acute leukaemia, tyrosine kinases, chromosomal, rearrangements, gene fusion, JAK2, targeted therapy",

author = "Downes, {Charlotte E. J.} and Jacqueline Rehn and Heatley, {Susan L.} and David Yeung and McClure, {Barbara J.} and White, {Deborah L.}",

year = "2022",

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doi = "10.1111/bjh.17910",

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T1 - Identification of a novel GOLGA4–JAK2 fusion gene in B-cell acute lymphoblastic leukaemia

AU - Downes, Charlotte E. J.

AU - Rehn, Jacqueline

AU - Heatley, Susan L.

AU - Yeung, David

AU - McClure, Barbara J.

AU - White, Deborah L.

PY - 2022/2

Y1 - 2022/2

N2 - Rearrangements of Janus kinase 2 (JAK2r) form a subtype of acute lymphoblastic leukaemia (ALL) associated with poor patient outcomes. We present a high-risk case of B-cell ALL (B-ALL) where retrospective mRNA sequencing identified a novel GOLGA4–JAK2 fusion gene. Expression of GOLGA4–JAK2 in murine pro-B cells promoted factor-independent growth, implicating GOLGA4–JAK2 as an oncogenic driver. Cells expressing GOLGA4–JAK2 demonstrated constitutive activation of JAK/STAT signalling and were sensitive to JAK inhibitors. This study contributes to the diverse collection of JAK2 fusion genes identified in B-ALL and supports the incorporation of JAK inhibitors into treatment strategies to improve outcomes for this subtype.

AB - Rearrangements of Janus kinase 2 (JAK2r) form a subtype of acute lymphoblastic leukaemia (ALL) associated with poor patient outcomes. We present a high-risk case of B-cell ALL (B-ALL) where retrospective mRNA sequencing identified a novel GOLGA4–JAK2 fusion gene. Expression of GOLGA4–JAK2 in murine pro-B cells promoted factor-independent growth, implicating GOLGA4–JAK2 as an oncogenic driver. Cells expressing GOLGA4–JAK2 demonstrated constitutive activation of JAK/STAT signalling and were sensitive to JAK inhibitors. This study contributes to the diverse collection of JAK2 fusion genes identified in B-ALL and supports the incorporation of JAK inhibitors into treatment strategies to improve outcomes for this subtype.

KW - acute leukaemia

KW - tyrosine kinases

KW - chromosomal

KW - rearrangements

KW - gene fusion

KW - JAK2

KW - targeted therapy

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UR - http://purl.org/au-research/grants/NHMRC/1057746

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DO - 10.1111/bjh.17910

M3 - Article

SN - 0007-1048

VL - 196

SP - 700

EP - 705

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 3

ER -

Identification of a novel GOLGA4–JAK2 fusion gene in B-cell acute lymphoblastic leukaemia

Abstract

Keywords

UN SDGs

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