伴GATA1变异的非唐氏综合征急性巨核细胞白血病2例并文献复习  

GATA1-positive non-Down syndrome acute megakaryoblastic leukemia:a report of two cases with literature review

作　　者：张枫 陆爱东[1] 左英熹[1] 张乐萍[1] ZHANG Feng;LU Aidong;ZUO Yingxi;ZHANG Leping(Department of Pediatrics,People’s Hospital,Peking University,Beijing 100044,China)

机构地区：[1]北京大学人民医院儿科,北京100044

出　　处：《临床儿科杂志》2021年第5期346-349,共4页Journal of Clinical Pediatrics

基　　金：北京市临床重点专科项目(2018)(No.2199000726)。

摘　　要：目的探讨GATA1基因变异致急性巨核细胞白血病(AMKL)的临床特征。方法分析2例GATA1基因变异致AMKL的非唐氏综合征患儿的临床资料,并复习相关文献。结果例1为2岁女性AMKL患儿,无特殊面容及发育迟缓;病初骨髓染色体核型示50,XX,+8,+10,+21,+21[7]/46,XX[13];基因检测示GATA1基因变异c.52dupT;经诱导化疗骨髓缓解后复查外周血染色体示46,XX;目前无病生存。例2为1岁男性AMKL患儿,无特殊面容;病初骨髓染色体核型示47,XY,+21[10]/46,XY[10];基因检测示GATA 1变异;经化疗骨髓缓解后复查染色体示46,XY;目前持续缓解中。结论提示在非唐氏综合征儿童罹患AMKL时需重视GATA1基因变异的检测。Objective To investigate clinical characteristics of GATA 1-positive non-Down syndrome(DS)acute megakaryoblastic leukemia(AMKL).Methods Clinical data of two children with AMKL were retrospectively analyzed,and related literatures were reviewed.Results Case one was a 2-year-old girl diagnosed as AMKL by bone marrow morphology,immunotyping,molecular and genetic analysis,with no special facial features or developmental delay.Bone marrow chromosome karyotype at the beginning showed 50,XX,+8,+10,+21,+21[7]/46,XX[13].Gene test identified a mutation of c.52dupT in GATA1 gene.After induction chemotherapy,peripheral blood chromosome showed 46,XX.Now she has a disease-free survival.Case two was a 1-year-old boy diagnosed as acute AMKL without Down's special features.The karyotype of bone marrow at the beginning was 47,XY,+21[10]/46,XY[10].Gene test identified a mutation in GATA1,and chromosome reexamination after bone marrow remission chemotherapy showed 46,XY.Continuous bone marrow remission was observed at a 30-month follow-up.Conclusion These cases emphasize that the importance of GATA1 testing for the non-DS AMKL.

关 键 词：急性巨核细胞白血病 非唐氏综合征 GATA1变异 

分 类 号：R733.71[医药卫生—肿瘤]