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ZMIZ1::ABL1融合:一种罕见的分子事件,在儿童癌症中具有临床影响

Kevin T A Booth¹, Rachael R Schulte², Laurin Smith¹

¹From the Department of Medical and Molecular Genetics (Booth, Smith, Stohler, Vance), Center for Computational Biology and Bioinformatics, Department of Medical and Molecular Genetics (Gao, Liu), and the Department of Pathology and Laboratory Medicine (Vance), Indiana University School of Medicine, Indianapolis.

Archives of pathology & laboratory medicine

|May 15, 2024

概括

在儿科B细胞急性淋巴细胞白血病中,一种不常见的t(9;10) 转位会产生ZMIZ1::ABL1融合转录. 这一发现指导了针对这种特定白血病亚型的ABL1向治疗,包括铁氨酸激酶抑制剂.

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:

儿科B细胞急性淋巴细胞白血病 (B-ALL) 表现出遗传异质性.
染色体转位,特别是涉及ABL原瘤基因1和非受体氨酸激酶 (ABL1) 的染色体转位,是B-ALL的关键驱动因素.
描述罕见的转位是精确诊断和治疗的关键.

研究的目的:

研究和定义急性白血病中不常见的染色体转位.
阐明这种特定转位的遗传基础和分子后果.
确定已识别的遗传异常的治疗影响.

主要方法:

在骨髓样本上进行了型和光在位杂交 (FISH) 分析.
RNA测序和转录组分析确定了融合转录.
三维分子建模可视化了异常融合蛋白的结构影响.

主要成果:

确定了一个复杂的型,包括一个t(9;10)(q34.1;q22) 转位.
鱼类证实了ABL1中断.
转录组分析揭示了ZMIZ1::ABL1融合转录,3D建模显示了改变的,构成性活跃的ABL1蛋白结构.

结论:

导致ZMIZ1::ABL1融合的t(9;10) 转位是BCR::ABL1-like B-ALL.的罕见亚型.
识别这种转位,ABL1破坏,以及ZMIZ1::ABL1转录使得有针对性的ABL1治疗成为可能.
支持使用氨酸激酶抑制剂治疗ZMIZ1::ABL1衍生的B-ALL.

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