融合基因及其与埃及AML患者遗传变异的关系
Reham Abdel Haleem Abo Elwafa1, Magdy Mamdouh ElBordiny1, Akram Deghedy1
1Clinical and Chemical Pathology Department, Alexandria University, Alexandria, Egypt.
Asian Pacific journal of cancer prevention : APJCP
|March 29, 2025
概括
下一代测序 (NGS) 确定了罕见的融合转录,包括CBFB:: MYH11,以及埃及患者新型急性髓性白血病 (AML) 的众多遗传变异,影响了预后.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 急性髓性白血病 (AML) 是一种由遗传异常驱动的骨髓恶性瘤.
- 下一代测序 (NGS) 已经揭示了AML的众多遗传融合和变异.
- 这些遗传变化的同时发生会影响患者的预后.
研究的目的:
- 研究融合基因及其与埃及AML患者的基因变异之间的关系.
- 使用NGS进行AML的综合基因分析.
主要方法:
- 针对融合基因 (MECOM,MET,MLLT10,MLLT3,MYBL1,MYH11,NTRK3) 和热点区域 (FLT3,KIT,NRAS,KRAS,HRAS) 的定向测序,使用在Ion S5 NGS系统上的OncomineTM骨髓体研究小组.
- 来自24名埃及AML患者的骨髓吸附样本的分析.
主要成果:
- 在两个案例中确定了MYH11基因的一个融合 (CBFB:: MYH11),以及罕见的融合转录和一个新的MYH11断点.
- 总共检测到5个基因的337个变异,大多数是良性的.
- 这两个融合阳性病例表现出三种致病变异 (2 KRAS,1 NRAS) 和一种新型FLT3变异.
结论:
- NGS对于检测AML的遗传变异和融合至关重要.
- 识别这些遗传变异对于预测AML患者的预后至关重要.
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