唐氏综合症（r/r ML-DS）复发难治性粒细胞白血病的治疗面临着巨大的挑战，因为预后很糟糕，而且没有既定的标准治疗方法。该指南根据文献综述和专家意见收集提供治疗建议，旨在提高患者的总体生存率和无事件生存率。治疗选择包括氟达拉滨和阿糖胞苷 (FLA) ± 吉妥珠单抗奥佐米星 (GO)、氮胞苷 (AZA) ± 帕比司他和造血干细胞移植 (HSCT)。对于原始细胞计数低的病例，首选方法是 AZA ± 帕比司他，对于原始细胞计数高的病例，首选方法是 FLA ± GO，然后在缓解后进行 HSCT。进一步的研究对于靶向治疗（例如 BH3 模拟物、LSD1、JAK 抑制剂）的研究至关重要。© 2024 作者。儿科血液

Treatment of relapsed and refractory myeloid leukemia in Down syndrome (r/r ML-DS) poses significant challenges, as prognosis is dire and there is no established standard treatment. This guideline provides treatment recommendations based on a literature review and collection of expert opinions, aiming to improve overall and event-free survival of patients. Treatment options include fludarabine and cytarabine (FLA) ± gemtuzumab ozogamicin (GO), azacytidine (AZA) ± panobinostat, and hematopoietic stem cell transplantation (HSCT). Preferred approaches are AZA ± panobinostat for cases with low blast count or FLA ± GO for cases with high blast count, followed by HSCT after remission. Further research is crucial for the investigation of targeted therapies (e.g., BH3 mimetics, LSD1, JAK inhibitors).© 2024 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC.