Park Min-Seung, Ju Hee Young, Lee Ji Won, Yoo Keon Hee, Kim Hee-Jin, Cho Duck, Kim Hyun-Young
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Pediatr Hematol Oncol. 2025 Mar;42(2):115-125. doi: 10.1080/08880018.2025.2463927. Epub 2025 Feb 13.
Measurable residual disease (MRD) is critical in guiding therapeutic strategies for B-cell acute lymphoblastic leukemia (B-ALL). This study evaluated the performance of a novel next-generation sequencing-based Celemics IGH assay (CM-IGH; Celemics, Seoul, Korea) compared with the LymphoTrack IGH FR1 assay (LT-IGH; Invivoscribe Technologies, USA) and multiparameter flow cytometry (MFC). A total of 31 diagnostic and 60 follow-up bone marrow aspirate samples, all from the same 31 pediatric patients with B-ALL, were analyzed using the CM-IGH and LT-IGH assays on the MiSeq platform, as well as MFC according to EuroFlow guidelines. Initial IGH clonality was detected in 83.9% of CM-IGH samples and 90.3% of LT-IGH samples ( = 0.060). MRD positivity rates in follow-up samples were 74.5% for CM-IGH, 61.1% for LT-IGH, and 56.7% for MFC. CM-IGH showed concordance rates of 78.3% with LT-IGH and 68.1% with MFC, while LT-IGH demonstrated an 81.5% concordance rate with MFC. The correlation coefficients () of MRD levels were 0.831 between CM-IGH and LT-IGH, 0.702 between CM-IGH and MFC, and 0.776 between LT-IGH and MFC. The CM-IGH assay demonstrates substantial concordance with LT-IGH and MFC in detecting MRD in pediatric patients with B-ALL, highlighting the complementary value of IGH clonality assays and MFC.
可测量残留病（MRD）在指导B细胞急性淋巴细胞白血病（B-ALL）的治疗策略中至关重要。本研究评估了一种基于新一代测序的新型Celemics IGH检测法（CM-IGH；Celemics，韩国首尔）与LymphoTrack IGH FR1检测法（LT-IGH；美国Invivoscribe Technologies公司）及多参数流式细胞术（MFC）相比的性能。对来自31例B-ALL儿科患者的31份诊断性和60份随访骨髓穿刺样本，在MiSeq平台上使用CM-IGH和LT-IGH检测法进行分析，并根据EuroFlow指南进行MFC检测。在CM-IGH样本中83.9%检测到初始IGH克隆性，在LT-IGH样本中90.3%检测到（P = 0.060）。随访样本中CM-IGH的MRD阳性率为74.5%，LT-IGH为61.1%，MFC为56.7%。CM-IGH与LT-IGH的一致性率为78.3%，与MFC的一致性率为68.1%，而LT-IGH与MFC的一致性率为81.5%。CM-IGH与LT-IGH之间MRD水平的相关系数（r）为0.831，CM-IGH与MFC之间为0.702，LT-IGH与MFC之间为0.776。CM-IGH检测法在检测B-ALL儿科患者的MRD方面与LT-IGH和MFC具有高度一致性，突出了IGH克隆性检测法和MFC的互补价值。
