KMT2A基因重排急性髓系白血病临床特征与预后分析  

Analysis of clinical characteristics and prognosis of KMT2A gene rearrangement in acute myeloid leukemia

作　　者：问蓉 郑鑫琪 史文婷[2] 丁邦和[2] 陶善东[2] WEN Rong;ZHENG Xinqi;SHI Wenting;DING Banghe;TAO Shandong(Department of Laboratory,the Second Branch of the Affiliated Huai′an NO.1 People′s Hospital of Nanjing Medical University,Huai′an,Jiangsu 223300,China;Department of Hematology,The Affiliated Huai′an NO.1 People′s Hospital of Nanjing Medical University,Huai′an,Jiangsu 223300,China)

机构地区：[1]南京医科大学附属淮安第一医院第二分院检验科,江苏淮安223300 [2]南京医科大学附属淮安第一医院血液科,江苏淮安223300

出　　处：《现代医药卫生》2025年第2期337-341,共5页Journal of Modern Medicine & Health

基　　金：江苏省淮安市科技局项目(HAB202310)。

摘　　要：目的探讨KMT2A基因重排急性髓系白血病(AML)患者临床特征及预后情况。方法选取2018年12月至2023年11月南京医科大学附属淮安第一医院KMT2A基因重排AML患者7例,分析其临床资料特征及异基因造血干细胞移植(allo-HSCT)后的生存情况。结果7例患者KMT2A基因重排均为阳性,伙伴基因包括AF10、AF1q、AF6、ELL,且伴有WT1、FLT3-ITD、NRAS、U2AF1、EVI1等基因突变。5例患者在完全缓解状态接受allo-HSCT,2例患者在未缓解状态接受强烈化疗序贯allo-HSCT。移植前5例获形态学完全缓解,3例获完全分子生物学缓解(CMR),2例未缓解。7例患者移植后1个月均获得完全缓解,供受者嵌合状态为完全供者型,染色体核型转为正常核型。7例患者allo-HSCT后2年总生存率为57.14%(4/7)。4例患者于移植后12~16个月复发,总生存时间为20个月。截至随访日期,3例患者处于生存状态,骨髓形态学处于缓解状态,微小残留病阴性。结论allo-HSCT是提高KMT2A基因重排AML患者CMR率、延长总生存期的有效方案,移植后的维持治疗可能有助于改善预后。Objective To investigate the clinical characteristics and prognosis of acute myeloid leukemia(AML)patients with KMT2A gene rearrangement.Methods A total of seven patients with KMT2A gene rearrangement AML in Huai′an First Hospital Affiliated to Nanjing Medical University from December 2018 to November 2023 were selected.The clinical data and survival after allogeneic hematopoietic stem cell transplantation(allo-HSCT)were analyzed.Results KMT2A gene rearrangement was positive in all seven patients,with partner genes including AF10,AF1q,AF6,ELL and accompanied by mutations in WT1,FLT3-ITD,NRAS,U2AF1,EVI1,and other genes.Among them,5 patients received allo-HSCT in complete remission state,and two patients received intensive chemotherapy followed by allo-HSCT in unresponsive state.Before transplantation,five patients achieved complete morphological remission,three patients achieved complete molecular biological remission(CMR),and two patients did achieve remission.All the 7 patients achieved complete remission one month after transplantation.The chimeric state of the donor and recipient was complete donor type,and the chromosome karyotype changed to normal karyotype.The 2-year overall survival rate of 7 patients after allo HSCT was 57.14%(4/7).4 patients relapsed 12-16 months after transplantation,and the overall survival time was 20 months.Up to the date of follow-up,3 patients were in survival state,bone marrow morphology was in remission state,and minimal residual disease was negative.Conclusion Allo-HSCT is an effective approach to improve CMR rates and prolong overall survival in AML patients with KMT2A gene rearrangement.Maintenance therapy after transplantation may help to improve the prognosis.

关 键 词：急性髓系白血病 基因重排 异基因造血干细胞移植 

分 类 号：R552[医药卫生—血液循环系统疾病]