MLL-AF4融合基因阳性急性白血病患者的临床特征及预后分析  

Clinical characteristics and prognostic analysis of MLL-AF4 positive acute leukemia patients

作　　者：张梅香[1] 王春键 史琳 李燕 任汉云 ZHANG Meixiang;WANG Chunjian;SHI Lin;LI Yan;REN Hanyun(Department of Hematology,Peking University International Hospital,Beijing 102206,China)

机构地区：[1]北京大学国际医院血液科,北京102206

出　　处：《现代肿瘤医学》2023年第18期3427-3431,共5页Journal of Modern Oncology

摘　　要：目的:探讨MLL-AF4融合基因阳性急性白血病(MLL-AF4+AL)患者的临床特征和预后。方法:回顾性分析10例成人MLL-AF4+AL患者的临床资料,复习文献总结患者的临床特征及预后。结果:10例患者中女性6例,中位年龄34.5岁。起病时中位白细胞数114.89×109/L,5例合并弥散性血管内凝血,4例合并髓外侵犯。8例免疫表型符合急性B淋巴细胞白血病(B-ALL),其中6例pro-B-ALL,2例pre-B-ALL;2例混合表型急性白血病(MPAL),B/T淋系及B淋系/未分化型各1例。9例患者染色体具有t(4;11)(q21;q23)。7例B-ALL患者1疗程诱导化疗后6例获完全缓解(CR1),4例行异基因造血干细胞移植(allo-HSCT),2例患者死于移植后感染、脑出血及中枢复发,2例长期生存。2例未移植者于2疗程内复发。2例MPAL患者诱导化疗1例CR。复发的3例患者予Blinatumomab挽救治疗,1例CR2后出现髓外复发,另2例治疗无效。2例B-ALL治疗中发生系别转换。结论:成人MLL-AF4+AL具有独特临床特征,pro-B-ALL多见。起病时白细胞水平较高,髓外浸润和凝血异常多见。常规化疗具有较高缓解率,但易早期复发,可能发生谱系转换。Blinatumomab细胞靶向治疗对该类型白血病有一定疗效,但MRD转阴后allo-HSCT是改善其预后的唯一希望。Objective:To investigate the clinical features and prognosis of MLL-AF4 positive acute leukemia(AL).Methods:10 adult cases with MLL-AF4 positive AL were analyzed retrospectively and related literatures were reviewed to clarify the clinical featrues and prognosis of MLL-AF4 patients.Results:6 out of the 10 patients were females,with a median age of 34.5 years old.The number of median white blood cells at the time of diagnosis was 114.89×109/L.5 cases complicated with disseminated intravascular coagulation(DIC)and 4 cases with extramedullary invasion.The immunophenotypic characterization of 8 patients was acute B-lymphoblastic leukemia(B-ALL),including 6 case of pro-B-ALL and 2 case of pre-B-ALL.2 patients showed mixed phenotype acute leukemia(MPAL),one displayed a mixture of B/T lymphoid features and the other was B lymphoid/undifferentiated type.9 patients had chromosome t(4;11)(q21;q23).6 of 7 cases with B-ALL achieved the first complete remission(CR)after conventional chemotherapy.4 patients underwent allogeneic hematopoietic stem cell transplantation(allo-HSCT)in CR,2 cases died of post-transplantation infection,cerebral hemorrhage,and central recurrence,2 cases gained long term survival.2 patients without transplantation both relapsed within 2 courses of treatment.One patient of 2 patients with MPAL achieved CR after induction chemotherapy.Three relapsed patients were treated with Blinatumomab,one developed extramedullary relapse after CR2,and treatment failed in other two.Lineage switch occurred in 2 B-ALL patients during therapy.Conclusion:Adult MLL-AF4 positive AL has unique clinical characteristics.The majority is pro-B-ALL and few is pre-B-ALL and MPAL,often onset with high white blood cell counts,extramedullary infiltration and coagulable abnormality.Conventional chemotherapy has a higher response rate,but it's easy to relapse and lineage switch.Blinatumomab is effective as a salvage therapy,but allo-HSCT in MRD negative status should have the only potential to improve the prognosis of MLL-AF4+AL.

关 键 词：急性白血病 基因重排 MLL 预后 谱系转换 

分 类 号：R733.71[医药卫生—肿瘤]