21三体综合征并发急性巨核细胞白血病1例并文献复习

One pediatric case with 21 trisomy syndrome complicating acute megakaryocytic leukemia(AMKL)and the literature review

儿童急性巨核细胞白血病(AMKL)是临床上罕见的疾病,国内诊断率较国外低,分析原因可能是对该病缺乏认识。而21三体综合征患者并发急性白血病的风险是普通患儿的20倍,尚有资料显示21三体综合征患儿一旦患急性髓系白血病(AML),2/3者为AMKL。本研究目的是通过实例来分析21三体综合征患儿并发急性巨核细胞白血病的临床表现、分子生物学特征及预后因素,以提高对该病的认识,减少误诊和漏诊的发生。

As a rare clinical disease, acute megakaryocytic leukemia（AMKL）in children is less diagnosed domestical- ly than abroad,perhaps for absence of knowledge about it. Related documents disclose that the children with 21 tri- somy syndrome are complicated acute leukemia 20 times as easily as the common pediatric patients,and as soon as the children with 21 trisomy syndrome have acute myeloid leukemia,2/3 of them are the ones with AMKL.Through ex- ample analyses ,this paper discloses the clinical manifestations ,the molecular biological features and the factors affect- ing prognosis of AMKL in children,in order to deepen the knowledge, decrease misdiagnoses and missed diagnoses.