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 journalArticlepeer-review

2 Citations (Scopus)


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 languageEnglish
Pages (from-to)700-705
Number of pages6
JournalBritish Journal of Haematology
Issue number3
Early online date25 Oct 2021
Publication statusPublished - Feb 2022
Externally publishedYes


  • acute leukaemia
  • tyrosine kinases
  • chromosomal
  • rearrangements
  • gene fusion
  • JAK2
  • targeted therapy


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