具有特征性免疫表型的KMT2A基因重排婴儿急性淋巴细胞白血病的临床研究  

Clinical study of infantile acute lymphoblastic leukemia with characteristic immunophenotype KMT2A gene rearrangement

作　　者：杨柯 王薇 赵强 邓伟 蔺莉 YANG Ke;WANG Wei;ZHAO Qiang;DENG Wei;LIN Li(Department of Hematology,Gansu Provincial Central Hospital,Lanzhou,Gansu 730050,China;Second Part of Endoscopy Center,Gansu Provincial Central Hospital,Lanzhou,Gansu 730050,China;Department of Pediatric Hematology Oncology,Gansu Provincial Central Hospital,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省中心医院血液内科,甘肃兰州730050 [2]甘肃省中心医院内镜中心二部,甘肃兰州730050 [3]甘肃省中心医院小儿血液肿瘤科,甘肃兰州730050

出　　处：《检验医学与临床》2024年第14期2116-2120,共5页Laboratory Medicine and Clinic

基　　金：甘肃省自然科学基金项目(2022JR5RA729);甘肃省兰州市科技计划项目(2022-3-17、2022-5-91)。

摘　　要：目的 探讨具有特征性免疫表型的赖氨酸甲基转移酶2A(KMT2A)基因重排婴儿急性淋巴细胞白血病的诊断、分子机制及潜在治疗策略。方法 分析1例KMT2A基因重排婴儿急性早B前体淋巴细胞白血病患儿的临床资料及细胞形态学、流式细胞学、细胞遗传学及分子生物学等检查结果。采用“MLL-Rearranged”“KMT2A-Rearranged”“acute lymphoblastic leukemia”“infant”为关键词,对PubMed数据库2020-2023年发表的文献进行文献检索。结果 共检索到文献145篇,最终保留文献27篇。结合病例分析和文献复习,该研究主要从KMT2A基因重排婴儿早B前体淋巴细胞白血病的临床表现、免疫表型、生物学特征角度出发,重点叙述KMT2A基因重排婴儿白血病的发病分子机制以及治疗等研究现状。结论 KMT2A基因重排婴儿白血病的治疗仍具有挑战性,需要不断深入了解潜在的生物学特征,并确定风险分层的预后因素以及更有效的治疗策略。分子靶向治疗和免疫治疗可能是改善结局和降低治疗相关病死率的关键。Objective To investigate the diagnosis,molecular mechanism and potential treatment strategies of acute lymphoblastic leukemia in infants with KMT2A gene rearrangement with characteristic immunophenotype.Methods The clinical data and detection results of cell morphology,flow cytology,cytogenetics and molecular biology in 1 case of KMT2A gene rearrangement acute infantile pro-B lymphoblastic leukemia were analyzed.“MLL-rearranged”“KMT2A-rearranged”“acute lymphoblastic leukemia”and“infant”served as the key words and the literatures published in the PubMed database during 2020-2023 were retrieved.Results A total of 145 articles were retrieved,and 27 articles were retained finally.By combining with case analysis and literature review,this study mainly focuses on the clinical manifestations,immunophenotype and biological characteristics of infantile KMT2A gene rearrangement early B precursor lymphocyte leukemia,focuses on the study status quo in onset molecular mechanism and treatment of KMT2A gene rearrangement infantile leukemia.Conclusion The treatment of KMT2A gene rearrangement infantile leukemia still remains challenging,which needs to continue to in-depth understand the potential biological characteristics and determine the prognostic factors of risk stratification as well as more effective treatment strategies.The molecular targeted therapy and immunotherapy may be the key to improve the outcomes and reduce the treatment-related mortality.

关 键 词：免疫表型 赖氨酸甲基转移酶2A 基因重排 婴儿 淋巴细胞白血病 混合谱系白血病 

分 类 号：R557.4[医药卫生—血液循环系统疾病] R446.11[医药卫生—内科学]