Objective: This study aimed to observe the dynamic changes of NUP98::NSD1 expression before and after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Moreover, the clinical value of measurable residual disease (MRD) was analyzed. Methods: Sixteen AML patients who were diagnosed with the NUP98::NSD1 fusion gene and received allo-HSCT at Peking University People's Hospital were included. The NUP98::NSD1 fusion gene and leukemia-associated immunophenotype (LAIP) were monitored before and after transplantation to evaluate their MRD status. Results: The median follow-up time for all patients was 526 days (139-1136 days) , with four patients (25.0%) experiencing hematological recurrence at a median of 474 days (283-607 days) after transplantation. Three patients (18.8%) died, two of whom (12.5%) died of leukemia recurrence. The median expression level of NUP98::NSD1 in newly diagnosed patients with complete data was 78.5% (18.9%-184.4%) at the time of initial diagnosis. The recurrence rate was higher in NUP98::NSD1-positive patients after transplantation, with 44.4% of patients experiencing recurrence, whereas no recurrence occurred in NUP98::NSD1-negative patients after transplantation. The area under the receiver operating characteristic curve predicted by the NUP98::NSD1 level after transplantation was 1.000 (95% confidence interval: 1.000-1.000, P=0.003) . Among the four patients with recurrence, NUP98::NSD1 was more sensitive than flow cytometry residual (FCM) and Wilms' tumor gene 1 (WT1) . Conclusions: The NUP98::NSD1 fusion gene can be used to evaluate the MRD status of allo-HSCT. NUP98::NSD1-positive patients after transplantation have a high relapse rate and poor prognosis. NUP98::NSD1 was more sensitive than FCM and WT1 in predicting posttransplant relapse.
目的： 观察急性髓系白血病（AML）患者异基因造血干细胞移植（allo-HSCT）前后核孔蛋白98（NUP98）::NSD1融合基因表达的动态变化，并初步分析其作为可检测残留病（MRD）评估指标预测移植后白血病复发的临床价值。 方法： 16例在北京大学人民医院诊断为NUP98::NSD1融合基因阳性AML并接受allo-HSCT的患者纳入研究，移植前后监测NUP98::NSD1融合基因、流式细胞术（FCM）检测白血病免疫残留等指标来评估其MRD状态。 结果： 所有患者中位随访时间为526（139~1136）d，共有4例（25.0%）患者在移植后出现血液学复发，中位复发时间为474（283~607）d。3例（18.8%）患者死亡，其中2例（12.5%）死于白血病复发。数据齐全的初诊患者在初诊时NUP98::NSD1的中位表达水平为78.550%（18.900%~184.400%）。移植后NUP98::NSD1阳性患者复发率更高，NUP98::NSD1阳性患者中44.4%发生复发，移植后NUP98::NSD1阴性患者中无发生复发。移植后NUP98::NSD1水平预测复发的ROC曲线下面积（AUC）=1.000（95%CI 1.000~1.000，P=0.003）。4例复发患者中，NUP98::NSD1较FCM检测免疫残留和Wilms肿瘤基因1（WT1）更为敏感。 结论： NUP98::NSD1融合基因可用于评估该类AML的MRD状态。移植后NUP98::NSD1阳性患者复发率高，预后差。NUP98::NSD1比FCM和WT1预测移植后复发更为敏感。.
Keywords: Acute myeloid leukemia; Allogeneic hematopoietic stem cell transplantation; Fusion gene; Measurable residual disease; NUP98::NSD1; Relapse.