Rao Anupama, Hills Robert K, Stiller Charles, Gibson Brenda E, de Graaf Siebold S N, Hann Ian M, O'Marcaigh Aengus, Wheatley Keith, Webb David K H
Department of Haematology, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children, London, UK.
Br J Haematol. 2006 Mar;132(5):576-83. doi: 10.1111/j.1365-2141.2005.05906.x.
Down syndrome (DS) children are at an increased risk of developing myelodysplasia and acute myeloid leukaemia (AML). We retrospectively analysed the population-based data on 81 children with myeloid leukaemia of Down syndrome (ML-DS) from the UK National Registry of Childhood Tumours and experience in the Medical Research Council (MRC) AML 10 and AML 12 trials, which enrolled 46 children with ML-DS from 1988 to 2002. Eight per cent of UK children with AML had DS, but DS children comprised only 5% of children registered in MRC trials. The unique clinical characteristics of ML-DS were confirmed. Overall survival (OS) of ML-DS at 5 years increased from 47% in UK children diagnosed from 1988 to 1995 to 75% in children diagnosed from 1996 to 2002. OS for DS children registered in AML 10 and AML 12 was 74% in 5 years and improved from AML 10 to AML 12 (56% vs. 83%) There was no significant difference in OS between DS and non-DS children (OS: 74% vs. 62%, P = 0.4) in the trials, but this result masked a significant increase in early death amongst DS children, with a significant reduction in mortality later on. Relapse was significantly reduced (3% vs. 39%, P = 0.0003), leading to the improved disease-free survival (83% vs. 56%, P = 0.02). Given the increased number of early treatment-related deaths, future treatment protocols should aim to reduce chemotherapy dosage or intensity whilst maintaining low rates of resistant and recurrent disease.
唐氏综合征（DS）患儿患骨髓发育异常和急性髓系白血病（AML）的风险增加。我们回顾性分析了来自英国国家儿童肿瘤登记处的81例唐氏综合征髓系白血病（ML-DS）患儿的基于人群的数据，以及医学研究委员会（MRC）AML 10和AML 12试验的经验，这两项试验在1988年至2002年期间招募了46例ML-DS患儿。英国AML患儿中有8%患有DS，但DS患儿仅占MRC试验登记患儿的5%。ML-DS独特的临床特征得到了证实。ML-DS患儿5年总生存率（OS）从1988年至1995年诊断的英国患儿的47%提高到1996年至2002年诊断患儿的75%。在AML 10和AML 12中登记的DS患儿5年OS为74%，且从AML 10到AML 12有所改善（56%对83%）。试验中DS患儿和非DS患儿的OS无显著差异（OS：74%对62%，P = 0.4），但这一结果掩盖了DS患儿早期死亡的显著增加，而后期死亡率显著降低。复发率显著降低（3%对39%，P = 0.0003），导致无病生存率提高（83%对56%，P = 0.02）。鉴于早期治疗相关死亡人数增加，未来的治疗方案应旨在降低化疗剂量或强度，同时保持低耐药和复发率。
