21-三体综合征相关急性白血病：21例报告

目的总结21-三体综合征（DS）相关急性白血病（AL）患儿的临床、实验室检查特点及疗效，提高诊疗水平。方法分析21 例DS-AL 患儿的临床表现、实验室检查、治疗及预后。结果与非DS-AL 相比，21 例DS-AL 患儿发病年龄1~5 岁为主（占 85.7%），急性髓细胞白血病多见（占57.1%），乳酸脱氢酶>2 倍以上者较多（占61.9%）；13 例行心脏彩超检查10 例异常（占 67.9%），复杂型先天性心脏病常见（占38.5%）；6 例接受化疗，4 例完全缓解（占66.7%），合并感染死亡2 例，治疗相关死亡率 33.3%；2例减强度化疗者已分别无病生存21月及43月。结论DS-AL以急性髓细胞白血病多见，对化疗敏感，采用减强度化疗 预后较好。

Acute leukemia associated with Down syndrome:clinical analysis of 21 cases

Objective To summarize the clinical characteristics, laboratory findings and prognosis of patients with Down syndrome-related acute leukemia (DS-AL). Methods The clinical data, laboratory findings, chemotherapy and prognosis of 21 children with DS-AL were analyzed. Results Most of the children had disease onset of leukemia at 1 to 5 years of age (85.7%), and acute myeloid leukemia accounted for 57.1% of these cases; 61.9% of the patients had increased lactate dehydrogenase level by 2 folds or more. Of the 13 cases undergoing echocardiaography, 10 (67.9%) showed abnormal findings, and complex congenital heart disease was common (38.5% ). Six of the children received chemotherapy and complete remission was achieved in 4 cases; 2 patients died of infection, and the treatment-related mortality was 33.3%. The 2 patients receiving reduced intensive chemotherapy have so far had event-free survival for 21 and 43 months. Conclusion Acute myeloid leukemia is the most common subtype of DS-AL. Patients with DS-AL are sensitive to chemotherapy and the prognosis was favorable with reduced intensive chemotherapy.