Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan.
Blood. 2012 Aug 30;120(9):1810-5. doi: 10.1182/blood-2012-03-414755. Epub 2012 Jul 9.
Myeloid leukemia in Down syndrome (ML-DS) is associated with good response to chemotherapy and favorable prognosis. Because little research has been focused on refractory/relapsed (R/R) cases, we conducted a retrospective analysis for R/R ML-DS. Among ML-DS patients diagnosed between 2000 and 2010 in Japan, 26 relapsed (25 in the BM and 1 in the skin), and 3 refractory patients were enrolled. The male/female ratio was 18/11. The median age at initial diagnosis of ML-DS was 2 years, and the median time to relapse was 8.6 months. Each patient initially had been treated with ML-DS-specific protocols. Thirteen of the 26 patients achieved complete remission with various kinds of reinduction chemotherapies; 2 of 8 survived without further recurrence after receiving allogeneic hematopoietic stem cell transplantation, and 4 of 5 maintained complete remissions with chemotherapy alone. Treatment failures mostly were associated with disease progression rather than treatment-related toxicities. The 3-year OS rate was 25.9% ± 8.5%. A longer duration from initial diagnosis to relapse was a significant favorable prognostic factor (P < .0001). We conclude that clinical outcome for patients with R/R ML-DS generally are unfavorable, even in those receiving hematopoietic stem cell transplantation. Novel methods to identify poor prognostic factors for ML-DS are necessary.
唐氏综合征相关髓性白血病（ML-DS）对化疗反应良好，预后较好。由于很少有研究关注难治/复发（R/R）病例，我们对 R/R ML-DS 进行了回顾性分析。在日本，2000 年至 2010 年间诊断为 ML-DS 的患者中，有 26 例复发（25 例在骨髓中，1 例在皮肤中），3 例难治性患者被纳入研究。男女比例为 18/11。ML-DS 初诊时的中位年龄为 2 岁，复发的中位时间为 8.6 个月。每位患者最初均接受了 ML-DS 特异性方案治疗。26 例患者中有 13 例通过各种再诱导化疗达到完全缓解；2 例接受异基因造血干细胞移植后无进一步复发而存活；5 例中有 4 例单独接受化疗维持完全缓解。治疗失败主要与疾病进展有关，而非与治疗相关的毒性。3 年 OS 率为 25.9%±8.5%。从初诊到复发的时间较长是一个显著的有利预后因素（P<.0001）。我们得出结论，R/R ML-DS 患者的临床结局通常不佳，即使接受造血干细胞移植也是如此。有必要寻找新的方法来确定 ML-DS 的不良预后因素。
