Kurita Naoki, Kato Takayasu, Nanmoku Toru, Maruyama Yumiko, Suehara Yasuhito, Hattori Keiichiro, Sakamoto Tatsuhiro, Yokoyama Yasuhisa, Yoshida Chikashi, Tsuboi Yuri, Obara Naoshi, Nishikii Hidekazu, Sakata-Yanagimoto Mamiko, Chiba Shigeru
Department of Hematology, Faculty of Medicine, University of Tsukuba.
Department of Laboratory Medicine, University of Tsukuba Hospital.
Rinsho Ketsueki. 2022;63(10):1397-1401. doi: 10.11406/rinketsu.63.1397.
NUP98::DDX10 is a rare fusion gene associated with acute myeloid leukemia (AML), for which the prognosis and indication for allogeneic hematopoietic stem cell transplantation are unknown. A 48-year-old woman was diagnosed with AML harboring NUP98::DDX10. The results of quantitative RT-PCR of the fusion mRNA as a minimal residual disease (MRD) marker guided the treatment. In August 2019, the patient achieved hematological remission following standard remission induction therapy with idarubicin and cytarabine. After four cycles of consolidation therapies, MRD was detected, and she underwent allogeneic stem cell transplantation in May 2020. As MRD persisted in June, the immunosuppressant was stopped and three cycles of azacitidine were administered. Despite this, a hematological relapse occurred in January 2021 that was resistant to high-dose cytarabine and an investigational agent. She died as a result of the disease's progression. Thus, a second thought should be given to the timing of transplantation, the bridging, and the intervention for relapse after transplantation. The cases must be accumulated.
NUP98::DDX10是一种与急性髓系白血病(AML)相关的罕见融合基因,其异基因造血干细胞移植的预后和指征尚不清楚。一名48岁女性被诊断为携带NUP98::DDX10的AML。作为微小残留病(MRD)标志物的融合mRNA定量逆转录聚合酶链反应(RT-PCR)结果指导了治疗。2019年8月,患者在接受伊达比星和阿糖胞苷标准缓解诱导治疗后实现血液学缓解。在四个周期的巩固治疗后,检测到MRD,她于2020年5月接受了异基因干细胞移植。由于6月MRD持续存在,停用免疫抑制剂并给予三个周期的阿扎胞苷。尽管如此,2021年1月仍发生血液学复发,对大剂量阿糖胞苷和一种研究药物耐药。她因疾病进展而死亡。因此,应重新考虑移植时机、过渡治疗以及移植后复发的干预措施。必须积累病例。