目的 探讨儿童非唐氏综合征相关急性巨核细胞白血病（non-Down-syndrome-related acute megakaryoblastic leukemia, non-DS-AMKL）的临床特点及预后。 方法 回顾性分析2013年1月—2023年12月郑州大学第一附属医院儿童医院收治的17例non-DS-AMKL患儿的临床资料，总结其临床特点、治疗及预后。 结果 共纳入17例患儿，其中男8例，女9例；14例发病年龄<36个月，中位年龄为21个月（范围：13~145个月）。免疫分型结果示，CD61阳性16例，CD41阳性13例。16例行染色体核型分析，其中6例为正常核型，9例为异常核型，其中5例为复杂核型，1例未见核分裂象。融合基因涉及EVI1、NUP98-KDM5A、KDM5A-MIS18BP1、C22orf34-BRD1、WT1、MLL-AF9；突变基因涉及TET2、D7S486缺失（提示为7q-）、CSF1R缺失、PIM1。17例均接受化疗，其中16例（94%）1个疗程诱导治疗后骨髓达到完全缓解，1例行造血干细胞移植，目前无病存活中。7例复发，其中1例行造血干细胞移植后死于移植物抗宿主病。截至随访日期，6例无病存活。 结论 non-DS-AMKL主要累及1~3岁幼儿；患儿染色体异常发生率高且多为复杂核型，部分患儿伴有融合基因及突变基因阳性，虽诱导缓解率高，但长期生存率低。

Objective To investigate the clinical features and prognosis of children with non-Down-syndrome-related acute megakaryoblastic leukemia (non-DS-AMKL). Methods A retrospective analysis was conducted on the medical data of 17 children with non-DS-AMKL who were admitted to Children's Hospital of The First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023, and their clinical features, treatment, and prognosis were summarized. Results Among the 17 children with non-DS-AMKL, there were 8 boys and 9 girls. Fourteen patients had an onset age of less than 36 months, with a median age of 21 months (range:13-145 months). Immunophenotyping results showed that 16 children were positive for CD61 and 13 were positive for CD41. The karyotype analysis was performed on 16 children, with normal karyotype in 6 children and abnormal karyotype in 9 children, among whom 5 had complex karyotype and 1 had no mitotic figure. Detected fusion genes included EVI1, NUP98-KDM5A, KDM5A-MIS18BP1, C22orf34-BRD1, WT1, and MLL-AF9. Genetic alterations included TET2, D7S486 deletion (suggesting 7q-), CSF1R deletion, and PIM1. All 17 children received chemotherapy, among whom 16 (94%) achieved complete remission after one course of induction therapy, and 1 child underwent hematopoietic stem cell transplantation (HSCT) and remained alive and disease-free. Of all children, 7 experienced recurrence, among whom 1 child received HSCT and died of graft-versus-host disease. At the last follow-up, six patients remained alive and disease-free. Conclusions Non-DS-AMKL primarily occurs in children between 1 and 3 years of age. The patients with this disorder have a high incidence rate of chromosomal abnormalities, with complex karyotypes in most patients. Some patients harbor fusion genes or gene mutations. Although the initial remission rate is high, the long-term survival rate remains low.