摘要
目的:探讨GATA2缺陷的临床表型、遗传学特点、治疗及预后。方法:报道2例典型的GATA2缺陷患者,总结他们的临床表现、基因变异特点及治疗转归,并进行文献复习。结果:2例GATA2缺陷患者均存在胚系GATA2变异,1例为家族遗传,1例为自发突变,临床表现主要包括骨髓增生异常综合征/急性髓系白血病易感性,免疫缺陷,血管/淋巴管功能不良等。2例目前均存活,其中1例经异基因造血干细胞移植后目前无白血病生存。结论:GATA2缺陷临床表型呈多样性,共同遗传学基础为胚系GATA2基因杂合变异,异基因造血干细胞移植是唯一治愈手段。
Objective:To explore the clinical features,genetic basis,treatment and prognosis of GATA2 deficiency. Methods:We reported two cases of classical GATA2 deficiency.The clinical characteristics,genetic mutations,treatment and outcomes of the two cases were summarized,and relative literatures were reviewed. Results:Both of the two cases harbored germline mutations in GATA2 gene.One case was sporadic mutation and the other was familial inheritance.The clinical manifestations included immunodeficiency,susceptibility to myelodysplastic syndrome/acute myeloid leukemia,vascular/lymphatic dysfunction and others.They were both alive with one being leukemia-free after allogeneic hematopoietic stem cell transplantation.Conclusion:GATA2 deficiency is identified with a broad spectrum of clinical manifestations.Heterozygous germ line mutations in GATA2 are the genetic basis.Allogeneic hematopoietic stem cell transplantation is the only curable means.
作者
任媛媛
张然然
张丽
陈玉梅
郭晔
杨文钰
竺晓凡
REN Yuanyuan;ZHANG Ranran;ZHANG Li;CHEN Yumei;GUO Ye;YANG Wenyu;ZHU Xiaofan(State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medi-cal Sciences&.Peking Union Medical College,Tianjin,300020,China)
出处
《临床血液学杂志》
CAS
2021年第1期41-44,共4页
Journal of Clinical Hematology
基金
国家重点研发计划(No:2016YFC0901503)。
