免疫性血小板减少症转化为RUNX1基因阴性的儿童急性巨核细胞白血病临床分析

目的 分析免疫性血小板减少症转化为RUNX1基因阴性的儿童急性巨核细胞白血病患者资料，复习此类罕见病的文献资料，探讨该病的临床特征。方法 选择安徽省儿童医院血液科2018年1~12月收治的2例急性巨核细胞白血病患儿为研究对象，回顾性分析患儿的临床资料及实验室检查结果。结果 2例患儿既往经骨髓细胞学等检查诊断为免疫性血小板减少症（ITP），曾对激素、丙球显效或部分显效，其后因出血症状就诊，经骨髓MICM分型等检查，确诊为RUNX1基因阴性的急性巨核细胞白血病。结论 反复血小板减少幼儿患者，应密切随访骨髓细胞学检查，并及时进行相关基因检测。

Analysis of clinical characteristics for immunothrombocytopenia transformed into RUNX1 gene negative pediatric acute megakaryocytic leukemia

Objective To analyze the clinical and laboratory findings of two children with immunothrombocytopenia transformed into RUNX1 gene negative acute megakaryocytic leukemia. To explore the clinical characteristics of this rare disease after the review of literature. Methods The clinical data and laboratory results of two children with acute megakaryocytic leukemia in the Department of Hematology, Anhui Children''s Hospital from January 2018 to December 2018 were analysed. Results Both children were diagnosed as immunothrombocytopenia by bone marrow cytology, which were complete response (CR) or partial response (PR)to glucocorticoid and/or intravenous injection of immunoglobulin (IVIG). After that, both patients were hospitalized due to the bleeding symptoms. Acute megakaryocytic leukemia with negative RUNX1 gene was diagnosed by MICM typing examination. Conclusions In recurrent thrombocytopenia children, especially in young children, bone marrow cytology should be followed up regularly. Molecular genetic examination and pedigree investigation should be carried out in time.