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Abstract：
Background: Children with Down syndrome (DS) have increased risk of myeloid leukemia (ML), but specific treatment protocols ensure excellent outcome. This study was a retrospective analysis of the treatment results and genetic characteristics of ML of DS (ML-DS) in Poland from 2005 to 2019. Methods: All 54 patients with ML-DS registered in the Polish Pediatric Leukemia and Lymphoma Study Group in analyzed period were enrolled to the study. There were 34 children treated with Acute Myeloid Leukemia-Berlin-Frankfurt-Munster 2004 Interim Protocol (group I) and 20 patients treated with ML-DS 2006 Protocol (group II). In the first protocol, there was reduction of the antracyclines doses and intrathecal treatment for ML-DS compared to non-DS patients. In the second protocol, further reduction of the treatment was introduced (omission of etoposide in the last cycle, no maintenance therapy). Results: Probabilities of 5-year overall survival (OS), event-free survival (EFS), and relapse-free survival in the whole analyzed group were 0.85 ± 0.05, 0.83 ± 0.05, and 0.97 ± 0.03, respectively. No significant differences were found between two protocols in the terms of OS and EFS (0.79 ± 0.07 vs. 0.95 ± 0.05, p = 0.14, and 0.76 ± 0.07 vs. 0.95 ± 0.05, p = 0.12, respectively). All deaths were caused by the treatment-related toxicities. Reduction of the treatment-related mortality was noticed (20% in group I and 5% in group II). The only one relapse in the whole cohort occurred in the patient from group I, older than 4 years, without GATA1 gene mutation. He was treated successfully with IdaFLA cycle followed by hematopoietic stem cell transplantation from matched sibling donor. No significant prognostic factor was found in the study group probably due to low number of patients in the subgroups. Conclusions: The study confirms that the reduced intensity protocols are very effective in ML-DS patients. The only cause of deaths was toxicities; however, systematic decrease of the treatment-related mortality was noticed.
摘要：
背景：儿童唐氏综合征（DS）有髓系白血病（ML）的风险增加，但具体的治疗方案可确保良好的结果。本研究对波兰2005年至2019年MLofDS(ML-DS)的治疗结果和遗传特征进行回顾性分析。方法：将波兰儿童白血病和淋巴瘤研究组中登记的所有54例ML-DS患者纳入研究。有34名儿童接受急性髓系白血病-柏林-法兰克福-明斯特2004临时方案治疗（I组），20名接受ML-DS2006方案治疗（II组）。在第一个协议中，与非DS患者相比,ML-DS患者的抗环素剂量和鞘内治疗减少.在第二个协议中，进一步减少治疗（在最后一个周期中省略了依托泊苷，没有维持治疗)。结果：5年总生存期（OS）的概率，无事件生存（EFS），整个分析组的无复发生存率分别为0.85±0.05、0.83±0.05和0.97±0.03。在OS和EFS方面，两种方案之间没有发现显着差异（0.79±0.07vs.0.95±0.05，p=0.14，0.76±0.07vs.0.95±0.05，p=0.12）。所有死亡均由治疗相关毒性引起。观察到治疗相关死亡率降低(I组为20%,II组为5%)。整个队列中唯一一次复发发生在第一组的患者中，4岁以上,无GATA1基因突变。他成功接受了IdaFLA周期治疗，然后从匹配的同胞供体进行了造血干细胞移植。研究组中没有发现明显的预后因素，可能是由于亚组患者数量少。结论：该研究证实，降低强度方案对ML-DS患者非常有效。死亡的唯一原因是毒性；然而，观察到治疗相关死亡率的系统性下降.
