儿童混合表型急性白血病伴BCR-ABL1融合基因阳性病例分析  

A child of mixed-phenotype acute leukemia with positive BCR-ABL1 fusion gene:a case report

作　　者：沈珂 李芝帆 李慧 武万良 SHEN Ke;LI Zhi-fan;LI Hui;WU Wan-liang(Department of Hemato-Oncology,Northwest Women's and Children's Hospital,Xi'an 710061,Shaanxi,CHINA)

机构地区：[1]西北妇女儿童医院血液肿瘤科,陕西西安710061

出　　处：《海南医学》2024年第15期2238-2242,共5页Hainan Medical Journal

基　　金：陕西省重点研发计划项目(编号:2022SF-242)。

摘　　要：混合表型急性白血病(mixed-phenotype acute leukemia,MPAL)是急性白血病中淋系和髓系同时受累的一种罕见疾病,该文报道了1例儿童MPAL,此病例BCR-ABL1融合基因阳性并伴ASXL1基因突变,这种类型的遗传学改变为首次报道。该患儿接受急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)方案诱导治疗后骨髓细胞形态学及微小残留病灶(minimal residual disease,MRD)均未见明显异常。巩固治疗后进行异基因造血干细胞移植,移植后未出现急性排斥反应。移植后30 d骨髓细胞形态学、MRD、BCR-ABL1融合基因均转阴。截至目前移植术后9个月,患者仍处于无疾病进展生存期(progression-free survival,PFS)中。Mixed-phenotype acute leukemia(MPAL)is a rare disease involving both lymphatic and myeloid systems in acute leukemia.We report a case of MPAL in a child with positive BCR-ABL1 fusion gene and ASXL1 gene mutation.These genetic changes are reported for the first time.After induction therapy with acute lymphoblastic leukemia(ALL),no abnormal cells were found in the bone marrow morphology and minimal residual disease(MRD)of the child.Allogeneic hematopoietic stem cell transplantation was performed after consolidation therapy,and no acute rejection was observed after transplantation.Bone marrow morphology,MRD,and BCR-ABL1 fusion genes all turned negative at 30 days after transplantation.As of 9 months after transplantation,the patient is still in progres-sion-free survival.

关 键 词：混合表型急性白血病 儿童 BCR-ABL1融合基因 ASXL1基因 

分 类 号：R729[医药卫生—儿科]