Fan Shuang, Yang Yang, Lu Shengye, Huang Jiayu, Zhao Xiaosu, Cao Yang, Mo Xiaodong, Hu Xiaoxia
Peking University People's Hospital, Peking University Institute of Hematology, Beijing, China.
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.
J Transl Int Med. 2025 Jul 31;13(4):375-385. doi: 10.1515/jtim-2025-0032. eCollection 2025 Aug.
Acute myeloid leukaemia (AML) with the translocation of chromosome (6;9)(p23;q34) forms the DEK-NUP214 fusion mRNA, which is a rare subtype (~1%). Owing to the paucity of this AML subtype, comprehensive studies analysing allogeneic haematopoietic stem cell transplantation (allo-HSCT) outcomes are lacking.
We aimed to evaluate the dynamic evolution of transcripts before and after allo-HSCT as well as the impact of pretransplant status on posttransplant outcomes in AML patients in a retrospective, multicentre study ( = 14).
Intermediate- or high-risk AML patients without transcripts receiving allo-HSCT during the same time period were enrolled as controls. Ten (71.4%) patients showed positivity before allo-HSCT. Except for one patient who died early after allo-HSCT, 7 out of the other 9 patients (77.8%) achieved negativity after allo-HSCT. The 2-year probabilities of relapse, non-relapse mortality (NRM), leukaemia-free survival (LFS), and overall survival (OS) were 14.3% (95% CI, 0%-33.6%), 35.7% (95% CI, 9.3%-62.1%), 50.0% (95% CI, 29.6%-84.4%), and 50.0% (95% CI, 29.6%-84.4%), respectively. The incidence of relapse was comparable between AML patients with and without transcript, but the incidence of NRM, LFS, and OS of patients with was poorer compared with those without transcript.
Thus, this study observed that allo-HSCT could overcome the poor prognosis of persistent positivity after chemotherapy; however, new therapies should be further identified to improve the outcomes of AML patients with .
伴有染色体（6；9）（p23；q34）易位的急性髓系白血病（AML）会形成DEK-NUP214融合mRNA，这是一种罕见的亚型（约1%）。由于这种AML亚型病例稀少，缺乏分析异基因造血干细胞移植（allo-HSCT）疗效的全面研究。
我们旨在通过一项回顾性多中心研究（n = 14），评估AML患者allo-HSCT前后转录本的动态演变以及移植前状态对移植后疗效的影响。
将同期接受allo-HSCT且无该转录本的中高危AML患者作为对照。10例（71.4%）患者在allo-HSCT前显示该转录本阳性。除1例在allo-HSCT后早期死亡的患者外，其他9例患者中有7例（77.8%）在allo-HSCT后实现了该转录本阴性。复发、非复发死亡率（NRM）、无白血病生存期（LFS）和总生存期（OS）的2年概率分别为14.3%（95%CI，0%-33.6%）、35.7%（95%CI，9.3%-62.1%）、50.0%（95%CI，29.6%-84.4%）和50.0%（95%CI，29.6%-84.4%）。有该转录本和无该转录本的AML患者复发率相当，但有该转录本患者的NRM、LFS和OS发生率与无该转录本患者相比更差。
因此，本研究观察到allo-HSCT可克服化疗后持续该转录本阳性的不良预后；然而，应进一步确定新的治疗方法以改善有该转录本的AML患者的疗效。
