摘要
目的探讨异基因造血干细胞移植(allo-HSCT)后序贯地西他滨用于治疗范可尼贫血(FA)进展为急性髓系白血病(AML)患儿的可行性及有效性。方法回顾分析1例FA进展为AML患儿接受同胞弟弟作为供体的单倍体移植,移植后予地西他滨维持治疗。结果患儿生后6岁出现贫血,8岁确诊范可尼贫血,按照再生障碍性贫血治疗(环孢素、安雄)6年无效,且进行性三系下降,血小板无效输注,骨髓检查诊断为AML。骨髓二代基因测序检测,仍然表现为FANCA基因c.3348+1G>A纯合变异。遂予FLAG方案(氟达拉滨+阿糖胞苷+粒细胞集落刺激因子)化疗后桥接以TBI为基础的清髓性预处理方案,+15天粒细胞及血小板植入,移植后给予患者减量环孢素,保持Ⅱ度皮排排异直至移植后1年,移植后6个月开始予每2个月予地西他滨,共计6次,同时监测WT1的表达水平。现已经移植后近6年,患儿无事件生存中。结论allo-HSCT后联合地西他滨序贯治疗能够有效治疗FA进展为AML。
Objective To investigate the feasibility and effectiveness of sequential decitabine after allogeneic hematopoietic stem cell transplantation(allo-HSCT)in the treatment of children with Fanconi anemia(FA)progressing to acute myeloid leukemia(AML).Methods The clinical data of an 8-year-old girl with progression from FA to AML who received haploid transplantation(younger brother as donor)followed by decitabine maintenance therapy were retrospectively analyzed.Results The child presented with anemia at 6 years old and Fanconi anemia was diagnosed at 8 years old.The child was treated with cyclosporine and testosterone undecanoate for 6 years without response,presenting with progressive trilineage decline and ineffective platelet transfusions,and finally was diagnosed with AML by bone marrow examination.The results of bone marrow NGS test showed c.3348+1G>A homozygous variation in FANCA gene.The patient was treated with FLAG(fludarabine+cytarabine+granulocyte colony-stimulating factor)chemotherapy followed by a myeloablative preconditioning regimen based on whole body irradiation.Granulocyte and platelet were engrafted 15 days after transplantation.After transplantation,the child was given a reduced dose of cyclosporine and she maintained gradeⅡskin graft-versus-host disease until 1 year after transplantation.From 6 months after transplantation,decitabine was administered every 2 months for a total of 6 times,and the expression level of WT 1 was monitored.It has now been nearly 6 years since the transplantation,and the child is in event-free survival.Conclusions The allo-HSCT combined with decitabine sequential therapy is effective in the treatment of AML progression from FA.
作者
戴银亮
何海龙
范丽艳
李捷
卢俊
肖佩芳
凌婧
郑佳佳
杜智卓
胡绍燕
DAI Yinliang;HE Hailong;FAN Liyan;LI Jie;LU Jun;XIAO Peifang;LING Jing;ZHENG Jiajia;DU Zhizhuo;HU Shaoyan(Department of Hematology,The Children’s Hospital of Soochow University,Suzhou 215025,Jiangsu,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2024年第1期75-79,共5页
Journal of Clinical Pediatrics
基金
江苏省科技厅项目(No.BE 2021654)
苏州市科技项目(No.GSWS2020039、No.SZS 201615)
国家临床研究中心血液系统疾病项目(No.2020ZKPB02)。
关键词
范可尼贫血
急性髓系白血病
造血干细胞移植
地西他滨
儿童
Fanconi anemia
acute myeloid leukemia
hematopoietic stem cell transplantation
dicitabine
child
