Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA, Australia.
School of Biological Sciences, Faculty of Sciences, University of Adelaide, Adelaide, SA, Australia.
Br J Haematol. 2022 Feb;196(3):700-705. doi: 10.1111/bjh.17910. Epub 2021 Oct 25.
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.
JAK2 重排形成一种与患者预后不良相关的急性淋巴细胞白血病（ALL）亚型。我们报告了一例 B 细胞 ALL（B-ALL）的高危病例，该病例通过回顾性 mRNA 测序鉴定出一种新型 GOLGA4-JAK2 融合基因。GOLGA4-JAK2 在小鼠前 B 细胞中的表达促进了因子非依赖性生长，表明 GOLGA4-JAK2 是一种致癌驱动基因。表达 GOLGA4-JAK2 的细胞显示出 JAK/STAT 信号的持续激活，并对 JAK 抑制剂敏感。本研究丰富了 B-ALL 中鉴定出的 JAK2 融合基因的多样性，并支持将 JAK 抑制剂纳入治疗策略，以改善这种亚型的预后。
