A RUNX1: RUNX1T1 AML与同时假阳性KMT2A重新排列:FISH解释陷
Chi Zhang1, Xingping Lang2,3, Lingfeng Liu2,3
1Department of Hematology, The First People's Hospital of Kunshan, Suzhou, People's Republic of China.
Hematology (Amsterdam, Netherlands)
|November 13, 2024
概括
在白血病中,KMT2A重组 (KMT2Ar) 是常见的. 一个AML病例显示,由于遥远的断点,KMT2Ar结果呈假阳性,突出显示需要进行分子测试来确认KMT2Ar.
科学领域:
- 血液学 血液学 血液学
- 基因组学就是基因组学.
- 分子诊断学 分子诊断学
背景情况:
- KMT2A重组 (KMT2Ar) 是急性白血病中经常发生的基因组变异.
- 梅宁抑制剂是KMT2Ar阳性白血病的有效向治疗方法.
- 光现场杂交 (FISH) 是KMT2Ar的标准诊断测试,但可以产生错误的阳性结果.
研究的目的:
- 在急性髓性白血病 (AML) 病例中调查KMT2Ar的FISH和RNA测序结果之间的差异.
- 为了确定虚假阳性KMT2Ar FISH结果的根本原因.
主要方法:
- 对KMT2Ar检测进行型分析和FISH.
- 针对性RNA下一代测序 (NGS) 用于融合转录识别.
- 全基因组伴侣对DNANGS用于分析KMT2A位点在11q23.3.
主要成果:
- 型和FISH表示RUNX1::RUNX1T1和KMT2Ar.
- RNA NGS证实了RUNX1::RUNX1T1,但没有KMT2A的融合转录.
- 全基因组DNA NGS揭示了KMT2A下游5.8 kb的断点,不破坏基因,导致错误的阳性FISH信号.
结论:
- 这一案例证明了KMT2Ar在初级AML中的错误阳性结果.
- 除了FISH之外的确认性分子测试对于准确的KMT2Ar诊断至关重要.
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