Background: Pediatric non-Down Syndrome Acute Megakaryoblastic Leukemia (non-DS-AMKL) is a rare subtype of Acute Myeloid Leukemia (AML) arising from primitive megakaryocytes and is associated with poor outcomes. Given its high incidence of relapse, this subpopulation of children is frequently referred for allogeneic hematopoietic stem cell transplant (allo-HSCT) in first complete remission (CR1). Objectives: The objective of this study was to describe the clinical outcomes of non-DS-AMKL pediatric patients in a large, single-institution cohort. Methods: A retrospective review of the medical records of thirty-six patients diagnosed with non-DS-AMKL treated at Texas Children’s Hospital from 2000 to 2022 was conducted. Results: Twenty-nine patients were included in the analysis, with cohorts defined by intention to treat. Twelve patients received chemotherapy only during upfront therapy, and seventeen received upfront HSCT. The 5-year overall survival (OS) and disease-free survival (DFS) for the entire cohort were 19.1% and 24.1%, respectively, with a median survival of 17.4 months. A higher percentage of patients in the chemotherapy-only group had relapsed/refractory disease at death (chemotherapy only,n= 9; HSCT,n= 8). However, 5-year OS and DFS were similar for both groups (OS = 18.8% vs. 31.3%,p= 0.58; DFS = 37.6% vs. 22.2%,p= 0.51). Relapse was the leading cause of death (5-year cumulative incidence of relapse (CIR) 0.78). Treatment with allo-HSCT did not improve outcomes due to the high CIR, even after HSCT in CR1. Conclusions: These dismal outcomes highlight the need for development and incorporation of novel targeted agents into upfront therapy or in the post-HSCT setting for patients with this challenging disease.
背景：儿童非唐氏综合征急性巨核细胞白血病（non-DS-AMKL）是一种起源于原始巨核细胞的罕见急性髓系白血病（AML）亚型，预后较差。鉴于其高复发率，这部分儿童患者常在首次完全缓解（CR1）时被推荐接受异基因造血干细胞移植（allo-HSCT）。目的：本研究旨在描述一个大型单中心队列中非DS-AMKL儿童患者的临床结局。方法：对2000年至2022年在德克萨斯儿童医院接受治疗的36例非DS-AMKL确诊患者的病历进行回顾性分析。结果：共29例患者纳入分析，根据治疗意向进行分组。12例患者在前线治疗中仅接受化疗，17例接受了前线HSCT。整个队列的5年总生存率（OS）和无病生存率（DFS）分别为19.1%和24.1%，中位生存期为17.4个月。仅化疗组患者在死亡时出现复发/难治性疾病的比例更高（仅化疗组n=9；HSCT组n=8）。然而，两组的5年OS和DFS相似（OS=18.8% vs. 31.3%，p=0.58；DFS=37.6% vs. 22.2%，p=0.51）。复发是主要死亡原因（5年累积复发率[CIR]为0.78）。由于高CIR，即使在CR1期进行HSCT后，allo-HSCT治疗也未能改善结局。结论：这些不良结局凸显了针对这一难治性疾病患者，在前线治疗或HSCT后阶段开发并引入新型靶向药物的必要性。
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