利用 ddPCR 技术对急性髓系白血病患者的 FLT3-ITD 突变进行超灵敏定量检测。
Ultrasensitive quantitation of FLT3-ITD mutation in patients with acute myeloid leukemia using ddPCR.
机构信息
Department of Hematology and Blood Banking, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Medical Laboratory Sciences Program, College of Health and Human Sciences, Northern Illinois University, DeKalb, IL, USA.
出版信息
Mol Biol Rep. 2023 Jul;50(7):6097-6105. doi: 10.1007/s11033-023-08534-x. Epub 2023 Jun 10.
BACKGROUND
FLT3-ITD mutations occur in 45-50% of cytogenetically normal AML patients. Conventional fragment analysis using capillary electrophoresis is routinely used to quantitate FLT3-ITD mutations. Fragment analysis however has limited sensitivity.
METHODS AND RESULTS
Here, FLT3-ITD was quantified in AML patients using an in-house developed ultra-sensitive droplet digital polymerase chain reaction assay (ddPCR). The allelic ratio of FLT3-ITD was also absolutely measured by both Fragment analysis and ddPCR. The sensitivity of ddPCR in quantitation of FLT3-ITD mutation was superior to Fragment analysis.
CONCLUSION
This study demonstrates the feasibility of using the described in-house ddPCR method to quantify the FLT3-ITD mutation and measure FLT3-ITD AR in AML patients.
背景
FLT3-ITD 突变发生在 45-50%的细胞遗传学正常的 AML 患者中。常规使用毛细管电泳的片段分析来定量 FLT3-ITD 突变。然而，片段分析的灵敏度有限。
方法和结果
在这里，使用内部开发的超灵敏液滴数字聚合酶链反应检测法（ddPCR）在 AML 患者中定量检测 FLT3-ITD。通过片段分析和 ddPCR 绝对测量 FLT3-ITD 的等位基因比。ddPCR 在定量检测 FLT3-ITD 突变方面的灵敏度优于片段分析。
结论
本研究证明了使用描述的内部 ddPCR 方法定量 FLT3-ITD 突变和测量 AML 患者中 FLT3-ITD AR 的可行性。
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