Children with Down syndrome are at an elevated risk of leukemia, especially myeloid leukemia (ML-DS). This malignancy is frequently preceded by transient abnormal myelopoiesis (TAM), which is self-limited expansion of fetal liver-derived megakaryocyte progenitors. An array of international studies has led to consensus in treating ML-DS with reduced-intensity chemotherapy, leading to excellent outcomes. In addition, studies performed in the past 20 years have revealed many of the genetic and epigenetic features of the tumors, including GATA1 mutations that are arguably associated with all cases of both TAM and ML-DS. Despite these advances in understanding the clinical and biological aspects of ML-DS, little is known about the mechanisms of relapse. Upon relapse, patients face a poor outcome, and there is no consensus on treatment. Future studies need to be focused on this challenging aspect of leukemia in children with DS.

患有唐氏综合症的儿童患白血病的风险较高，尤其是髓系白血病 (ML-DS)。这种恶性肿瘤通常先于短暂性异常骨髓细胞生成 (TAM)，这是胎儿肝脏来源的巨核细胞祖细胞的自限性扩张。一系列国际研究已就采用低强度化疗治疗 ML-DS 达成共识，从而取得了良好的疗效。此外，过去 20 年进行的研究揭示了肿瘤的许多遗传和表观遗传特征，包括GATA1可以说与所有 TAM 和 ML-DS 病例相关的突变。尽管在理解 ML-DS 的临床和生物学方面取得了这些进展，但对复发机制知之甚少。复发后，患者的预后很差，治疗方面也没有达成共识。未来的研究需要关注 DS 儿童白血病这一具有挑战性的方面。