摘要目的:分析先天性白血病患儿的临床特点。方法:选择郑州大学第一附属医院2019年1月至2024年1月收治的新生儿期诊断为先天性白血病的患儿进行回顾性分析，分为唐氏综合征相关先天性白血病和非唐氏综合征先天性白血病两组，总结两组患儿的特点。结果:共纳入11例先天性白血病患儿，6例合并唐氏综合征，5例为非唐氏综合征先天性白血病。6例唐氏综合征相关先天性白血病中急性髓系白血病M7型4例，M2型2例；4例存在危及生命情况的患儿未予阿糖胞苷化疗，其中3例死亡，1例失访；2例无明显临床症状，其中1例合并房间隔缺损，出院后追踪死亡，1例自发缓解，随访至5岁无复发。5例非唐氏综合征先天性白血病中M7型3例，混合表型白血病和急性淋巴细胞白血病各1例；3例进行减量化疗，其中2例死亡，死因分别为肝衰竭和重症水痘，1例诱导化疗后缓解，存活超过3年无复发；1例放弃后失访；1例予以对症支持治疗后死亡。结论:唐氏综合征相关先天性白血病临床存在危及生命症状者不予阿糖胞苷化疗预后差，非唐氏综合征先天性白血病减量化疗可延长患儿生命。

abstractsObjective:To study the clinical characteristics of congenital leukemia (CL).Methods:From January 2019 to January 2024, neonates diagnosed of CL in our hospital were retrospectively analyzed. The neonates were assigned into two groups: Down syndrome (DS) related CL(DSCL) group and non-DS related CL(non-DSCL) group.The clinical characteristics of the two groups were compared.Results:A total of 11 neonates with CL were enrolled, including 6 cases in DSCL group and 5 cases in non-DSCL group. In DSCL group, 4 cases were M7 [French-American-British (FAB) Classification] and 2 cases were M2. 4 cases had life-threatening conditions, none of the patients received cytarabine chemotherapy. 1 patient received symptomatic supportive treatment.3 died and 1 was lost on follow-up. 2 patients had no obvious symptoms, including 1 with asymptomatic atrial septal defect and died after discharge, the other had spontaneous remission and no recurrence at the age of 5-year-old. Among the 5 cases of non-DSCL, 3 were M7, 1 mixed phenotype leukemia and 1 acute lymphoblastic leukemia. 1 case was lost on follow-up after withdrawal of treatment, 1 case died after symptomatic supportive treatment and 3 cases received reduced-dose chemotherapy. For the 3 cases of chemotherapy, 1 died of liver failure and 1 of severe varicella, 1 case achieved remission after induction chemotherapy and survived more than 3 years without recurrence.Conclusions:DSCL patients with life-threatening symptoms but no cytarabine chemotherapy have a poor prognosis. Non-DSCL patients may achieve remission and reduced-dose chemotherapy can prolong the life of these patients.