Measurable residual disease (MRD) testing, a standard procedure in B-lymphoblastic leukemia (B-ALL) diagnostics, is assessed using multiparametric flow cytometry (MFC) and next-generation sequencing (NGS) analysis of immunoglobulin gene rearrangements. We evaluated the concordance between eight-color, two-tube MFC-MRD the LymphoTrack NGS-MRD assays using 139 follow-up samples from 54 pediatric patients with B-ALL. We also assessed the effect of hemodilution in MFC-MRD assays. The MRD-concordance rate was 79.9% (N=111), with 25 (18.0%) and 3 (2.2%) samples testing positive only by NGS-MRD (MFC^-NGS⁺MRD) and MFC-MRD (MFC⁺NGS^-MRD), respectively. We found a significant correlation in MRD values from total nucleated cells between the two methods (r=0.736 [0.647-0.806], P<0.001). The median MRD value of MFC^-NGS⁺MRD samples was estimated to be 0.0012% (0.0001%-0.0263%) using the NGS-MRD assays. Notably, 14.3% of MFC^-NGS⁺MRD samples showed NGS-MRD values below the limit of detection in the MFC-MRD assays. The percentages of hematogones detected in MFC-MRD assays significantly differed between the discordant and concordant cases (P<0.001). MFC and NGS-MRD assays showed relatively high concordance and correlation in MRD assessment, whereas the NGS-MRD assay detected MRD more frequently than the MFC-MRD assay in pediatric B-ALL. Evaluating the hematogone percentages can aid in assessing the impact of sample hemodilution.

中文翻译：

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使用多参数流式细胞术和新一代测序比较小儿 B 淋巴细胞白血病的可测量残留疾病。


可测量残留病 (MRD) 检测是 B 淋巴细胞白血病 (B-ALL) 诊断的标准程序，使用多参数流式细胞术 (MFC) 和免疫球蛋白基因重排的下一代测序 (NGS) 分析进行评估。我们使用来自 54 名 B-ALL 儿科患者的 139 个随访样本评估了八色、两管 MFC-MRD 和 LymphoTrack NGS-MRD 检测之间的一致性。我们还评估了 MFC-MRD 测定中血液稀释的效果。 MRD 一致性率为 79.9% (N=111)，仅通过 NGS-MRD (MFC ^- NGS ⁺ MRD) 和 MFC-MRD (MFC ⁺ NGS ^- MRD），分别。我们发现两种方法之间总有核细胞的 MRD 值存在显着相关性 (r=0.736 [0.647-0.806], P <0 id=11> - NGS ⁺ MRD 样本估计为 0.0012% (0.0001%-0.0263%) ) 值得注意的是，14.3% 的 MFC ^- NGS ⁺ MRD 样本显示 NGS-MRD 值低于 MFC-MRD 检测中的检测限。 MFC-MRD 检测中检测到的血细胞激素百分比存在显着差异。不一致和一致的病例（ P <0.001）在 MRD 评估中显示出相对较高的一致性和相关性，而 NGS-MRD 检测在儿童 B-ALL 中比 MFC-MRD 检测更频繁。血红素百分比可以帮助评估样本血液稀释的影响。