成年急性髓性白血病患者中，利用双工测序技术定量可测量残余疾病。
Quantification of measurable residual disease using duplex sequencing in adults with acute myeloid leukemia.
发表日期：2023 Aug 03
作者：
Laura W Dillon, Jake Higgins, Hassan Nasif, Megan Othus, Lan Beppu, Thomas H Smith, Elizabeth Schmidt, Charles C Valentine Iii, Jesse J Salk, Brent L Wood, Harry P Erba, Jerald P Radich, Christopher S Hourigan
来源：
HAEMATOLOGICA
摘要：
量化残余疾病（MRD）的存在与急性髓系白血病（AML）的治疗结果强相关。尽管与临床结果相关，MRD评估尚未标准化或常规纳入临床试验，并且观察到了不同MRD评估技术之间的差异。在随机的SWOG-S0106临床试验中，比较了62名AML患者（年龄为18-60岁），经过密集诱导治疗后实现第一次完全缓解，将集中的高质量多参数流式细胞术（MFC）进行的MRD检测与利用双工测序（DS）的29基因面板相比，DS是一种超敏感的下一代测序方法，它生成双链共识序列以减少假阳性错误。DS定义的MRD在22例（35%）患者中观察到，并与更高的复发率强相关（68%对13%；HR，8.8；95% CI，3.2-24.5；P.
The presence of measurable residual disease (MRD) is strongly associated with treatment outcomes in acute myeloid leukemia (AML). Despite the correlation with clinical outcomes, MRD assessment has yet to be standardized or routinely incorporated into clinical trials and discrepancies have been observed between different techniques for MRD assessment. In 62 patients with AML, aged 18-60, in first complete remission after intensive induction therapy on the randomized phase 3 SWOG-S0106 clinical trial, MRD detection by centralized, high-quality multiparametric flow cytometry (MFC) was compared with a 29 gene panel utilizing duplex sequencing (DS), an ultrasensitive next-generation sequencing method that generates doublestranded consensus sequences to reduce false positive errors. MRD as defined by DS was observed in 22 (35%) patients and was strongly associated with higher rates of relapse (68% vs 13%; HR, 8.8; 95% CI, 3.2-24.5; P.