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对IDH 1/2和TET2基因在急性髓性白血病患者中的遗传多态性研究

Manal Atef¹, Nevine Fawzy Shafik², Nagwa H A Hassan³

¹Histology and Genetic Section, Department of Clinical Pathology, National Cancer Institute, Cairo University, Egypt.

Asian Pacific journal of cancer prevention : APJCP

|September 29, 2023

概括

异酸脱酶 (IDH) 和TET2基因的遗传变化在埃及成年急性髓性白血病 (AML) 患者中很常见. 然而,这些突变与患者生存结果没有显著的相关性.

科学领域:

血液学血液学血液学
分子生物学分子生物学
在瘤学瘤学.

背景情况:

异酸脱酶基因 (IDH1和IDH2) 和TET2在细胞代谢和DNA甲基化中至关重要.
IDH1/2和TET2中的突变与细胞差异化和造血细胞表观遗传改变有关,这表明它们具有共同的瘤遗传作用.
研究这些遗传变异对于了解急性髓性白血病 (AML) 病原体至关重要.

研究的目的:

确定IDH1/2和TET2基因中基因变异的频率,在埃及成年患有新型AML的患者中.
探索IDH1/2和TET2遗传多态性和AML预后标准之间的关联.
确定与AML的临床结果相关的潜在分子标记物.

主要方法:

使用RT-PCR进行单核酸多态 (SNP) 试验.
这项研究分析了IDH1 (rs121913500),IDH2 (rs121913503) 和TET2 (rs2454206) 中的三个特定多态.
对141名被诊断患有AML的埃及成年患者进行了基因分析.

主要成果:

IDH突变的发生率为7.8% (5.5%的IDH1,4.3%的IDH2).
在51.1%的患者中观察到TET2突变 (10.7%的同卵性,40.4%的异卵性).
在AML患者中,IDH1,IDH2和TET2突变与无病生存期 (DFS) 或总生存期 (OS) 之间没有发现显著的相关性.

结论:

在埃及的AML患者中,TET2单核酸多态性 (SNP) 很普遍.
建议进行进一步的研究,以阐明IDH和TET2在白血病发生中的作用以及它们与其他血液性恶性瘤的关系.
一个更大的队列研究是必要的,以实现观察到的相关性潜在的统计学意义.

关键词:

异酸脱基酶的异酸.单个核酸多态的多态化十 - 十一转移-2 转移-2 急性骨髓性白血病 (AML) 是一种急性骨髓性白血病.

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