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目的 减少对幼年型粒单核细胞白血病(JMML)的误诊,探讨单倍体造血干细胞移植治疗急变后未获得完全緩解JMML的可行性,并分析JMML快速急变的原因.方法 3岁患儿历经误诊为免疫性血小板减少症(ITP)和传染性单核细胞增多症后确诊为JMML,伴有及基因突变,但快速急变为急性髄细胞性白血病AML-M4型,伴有EV11阳性表达.患儿接受母亲单倍体(HLA 7/10相合)造血干细胞移植,预处理方案为阿糖胞苷+白舒非+猪抗人T细胞免疫球蛋白+环磷酰胺,移植后采用环孢素A+霉酚酸酯(MMF)+短程甲氨蝶呤+甲基强的松龙方案预防移植物抗宿主病(GVHD).结果 移植后+14d白细胞植活,+18d血小板植活,未发生重度GVHD.移植后2个月减停全部免疫抑制剂,随访至2018年8月1日,患儿无病存活.结论 JMML急变后未获得完全緩解行单倍体造血千细胞移植治疗是可行的,同时存在N-RAS及CBL基因突变且有EVI1阳性可能是患儿快速急变的原因.“,”Objective To reduce the chance of misdiagnosis on juvenile myelomonocytic leukemia (JMML), investigate the feasibility of haploidentical transplantation for JMML transformed acute myeloid leukemia (AML) and analyze the cause of JMML transformation to AML rapidly. Methods A 3 years old girl was misdiagnosed as immune thrombocytopenia and infectious mononucleosis before the diagnosis of JMML with the N-RAS and CBL gene mutations. However, it rapidly transformed to AML-M4 with EVI1 gene positive expression. The patient was treated with haploidentical transplantation from her mother (HLA 7/10 match). The pre treatment scheme was Ara-C + BU + ATG + Cy, and GVHD prophylaxis was carried out using a regimen consisting of CsA, MMF, MTX and methylprednisolone. Results The time of neutrophil more than 0. 5 × 109/L and platelet more than 20 × 109/L were 14 days and 18 days post transplantation. No severe GVHD occurred. All immunosuppressive drugs were discontinued after 2 months post transplantation. The patient was disease free survival till now. Conclusions Haploidentical transplantation is a feasible treatment for JMML transformed AML. N-RAS and CBL gene mutations cooperate with EVI1 gene expression may cause the rapid leukemic transformation.