Shang Y K, Pan X A, Chang Y J, Qin Y Q, Wang Y, Yan C H, Sun Y Q, Huang X J, Zhao X S
Peking University People's Hospital & Peking University Institute of Hematology, National Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.
Zhonghua Xue Ye Xue Za Zhi. 2023 Dec 14;44(12):1010-1015. doi: 10.3760/cma.j.issn.0253-2727.2023.12.007.
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. 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. 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, =0.003) . Among the four patients with recurrence, NUP98::NSD1 was more sensitive than flow cytometry residual (FCM) and Wilms' tumor gene 1 (WT1) . 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.
本研究旨在观察异基因造血干细胞移植（allo-HSCT）前后NUP98::NSD1表达的动态变化。此外，分析了可测量残留病（MRD）的临床价值。纳入了16例在北京大 学人民医院被诊断为NUP98::NSD1融合基因并接受allo-HSCT的急性髓系白血病（AML）患者。在移植前后监测NUP98::NSD1融合基因和白血病相关免疫表型（LAIP），以评估其MRD状态。所有患者的中位随访时间为526天（139 - 1136天），4例患者（25.0%）在移植后中位474天（283 - 607天）出现血液学复发。3例患者（18.8%）死亡，其中2例（12.5%）死于白血病复发。在有完整数据的新诊断患者中，NUP98::NSD1的中位表达水平在初始诊断时为78.5%（18.9% - 184.4%）。移植后NUP98::NSD1阳性患者的复发率较高，44.4%的患者出现复发，而移植后NUP98::NSD1阴性患者未出现复发。移植后NUP98::NSD1水平预测的受试者工作特征曲线下面积为1.000（95%置信区间：1.000 - 1.000，P = 0.003）。在4例复发患者中，NUP98::NSD1比流式细胞术残留（FCM）和肾母细胞瘤基因1（WT1）更敏感。NUP98::NSD1融合基因可用于评估allo-HSCT的MRD状态。移植后NUP98::NSD1阳性患者的复发率高且预后差。NUP98::NSD1在预测移植后复发方面比FCM和WT1更敏感。
