变体特定的BCR::ABL1定量差异在慢性骨髓性白血病中
Koen Jacobs1, Alena Moerman2, Karl Vandepoele3
1Clinical Laboratory, AZ Sint-Lucas Hospital Ghent, Ghent, Belgium.
International journal of laboratory hematology
|June 6, 2024
概括
精确量化BCR::ABL1融合基因转录对于慢性髓性白血病 (CML) 管理至关重要. 使用转录特定的标准曲线或绝对量化方法可以减少BCR::ABL1测量的中心间变异性.
科学领域:
- 分子诊断学 分子诊断学
- 在瘤学瘤学.
- 临床化学 临床化学
背景情况:
- 在全血中精确量化BCR::ABL1融合基因对于治疗慢性髓性白血病 (CML) 至关重要.
- BCR::ABL1融合蛋白的大小因基因断点而异,大多数CML患者具有p210 BCR::ABL1融合基因.
- p210 BCR::ABL1融合基因通常来自e14a2 (b3a2) 或e13a2 (b2a2) 的mRNA转录结.
研究的目的:
- 用定量聚合酶链反应 (qPCR) 来评估BCR::ABL1量化中的中心间变异性.
- 评估转录特异性标准曲线和数字滴滴PCR (ddPCR) 对减少量化差异的影响.
- 突出CML患者监测中量化差异的临床影响.
主要方法:
- 在两个ISO15189认证的中心分析了25个CML样本,使用基于欧洲抗癌的标准化qPCR协议.
- 通过转录特定的标准曲线和数字滴滴PCR (ddPCR) 进行了重新分析.
- 两个中心的qPCR结果与ddPCR进行了比较,这是一种绝对量化方法.
主要成果:
- 在e13a2转录变体中观察到显著的中心间差异 (高达1log),但在e14a2转录中没有.
- 使用转录特定标准曲线的重新分析消除了这些中心间差异.
- 转录特异性qPCR结果显示与ddPCR有显著的关联,特别是在较低的量化范围.
结论:
- 转录特异性BCR::ABL1量化中的中心间差异可能会影响CML患者管理.
- 使用转录特定的标准曲线或绝对量化方法可以显著降低这些差异.
- 仔细解释量化差异是必不可少的,特别是对于在诊断中心之间转移的CML患者.
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