【摘要】 目的:分析伴有DEK-NUP214融合基因阳性的急性髓系白血病患者的临床特征。方法:对2018年1月至2023年10月就诊于苏州大学附属第一医院的26例患者通过多巢式PCR扩增DEK-NUP214融合基因，通过查阅门诊及住院病历和电话随访获得患者病程资料及移植后生存资料。结果:患者的中位随访时间为21.25(0.9-60.2)个月。26例DEK-NUP214融合基因阳性的AML患者中，FLT3-ITD基因突变阳性者15例。1例患者因诱导化疗未缓解放弃治疗死亡，1例因感染死亡，23例患者达CR后接受了allo-HSCT,其中1例移植后一月内因多重感染死亡，另外有1例因严重的肺部感染治疗无效死亡。1例患者于NR状态下接受了allo-HSCT,后因复发死亡。结论:伴DEK-NUP214融合基因阳性的AML是一类风险高、预后差的急性白血病亚型，在疾病缓解早期接受allo-HSCT是目前改善患者预后的最有效方法。更多还原

【Abstract】 Objective: To analyze the clinical features of acute myeloid leukemia patients with DEK-NUP214 fusion gene positive. Methods: The DEK-NUP214 fusion gene was amplified by multi-nested PCR in 26 patients admitted to the First Affiliated Hospital of Soochow University from January 2018 to October 2023, and the disease course and post-transplant survival data were obtained by searching outpatient and inpatient medical records and telephone follow-up. Results: The median follow-up time of pateints was 21.25(0.9-60.2) months. Among 26 patients with DEK-NUP214 fusion gene positive AML, 15 patients had FLT3-ITD gene mutation positive. One patient died after abandoning treatment due to non-remission of induction chemotherapy, one died due to infection, and 23 patients received allo-HSCT after achieving CR, of which one patient died within one month after transplantation due to multiple infections and one died due to severe pulmonary infection that did not respond to treatment. One patient received allo-HSCT in non-remission state and later died due to recurrence. Conclusion: DEK-NUP214 fusion gene positive AML is a type of acute leukemia subtype with high risk and poor prognosis. Allo-HSCT treatment at the early stage of disease remission is the most effective way to improve the prognosis of patients.更多还原