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LNK/SH2B3作为青少年骨髓单细胞白血病的一个新型驱动因素

Astrid Wintering¹, Anna Hecht², Julia Meyer¹

¹Department of Pediatrics, Benioff Children's Hospitals, University of California San Francisco, San Francisco, CA 94158.

|December 28, 2023

概括

青少年髓性单细胞白血病 (JMML) 可能是由编码LNK蛋白的SH2B3基因的突变引起的. 功能丧失的SH2B3突变导致细胞异常生长,并建议抑制JAK/STAT通路作为JMML的潜在治疗方法.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

青少年骨髓单细胞白血病 (JMML) 是一种罕见且具有攻击性的儿童癌症.
在正规的Ras通路基因中发生的突变在近90%的JMML患者中被发现.
在JMML中,SH2B3突变代表了一个新发现的引发突变的类别.

研究的目的:

调查SH2B3突变在JMML中的作用.
探索SH2B3功能丧失突变的功能后果.
评估JAK/STAT通路抑制在SH2B3突变的JMML中的治疗潜力.

主要方法:

对JMML患者样本的遗传分析.
在体外研究中,使用诱导的多能干细胞衍生出血造原始细胞.
用JAK抑制剂治疗的患者的临床评估.

主要成果:

确定了7名具有SH2B3突变的JMML患者,其中5名具有功能丧失突变.
发现SH2B3突变是生殖系,体系或两者兼而有之的.
突变SH2B3的细胞表现出细胞因子过敏和JAK/STAT通路激活.
在实验室中,SH2B3突变细胞对JAK抑制敏感.
两名患有SH2B3突变的JMML的患者对鲁克索利提尼布治疗产生了积极的反应.

结论:

在JMML中,SH2B3突变扩大了启动事件的频谱.
丧失LNK功能通过JAK/STAT通路失调导致JMML的发病.
用像鲁克索利提尼布这样的抑制剂向JAK/STAT通路是SH2B3突变JMML的有前途的治疗策略.

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