儿童急性红白血病临床特点及预后分析  

Clinical characteristics and prognosis of acute erythroleukemia in children

作　　者：朱平[1] 祁文静 陶冶晴 崔丁丁 盛光耀[1] 王春美[1] ZHU Ping;QI Wen-Jing;TAO Ye-Qing;CUI Ding-Ding;SHENG Guang-Yao;WANG Chun-Mei(Department of Children's Hematology and Oncology,First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿童血液与肿瘤科,河南郑州450052

出　　处：《中国当代儿科杂志》2025年第1期88-93,共6页Chinese Journal of Contemporary Pediatrics

摘　　要：目的探讨儿童急性红白血病(acute erythroleukemia,AEL)的临床特征和预后。方法回顾性分析2013年1月—2023年12月郑州大学第一附属医院收治的8例AEL患儿的临床资料、治疗和预后。结果可获得完整骨髓细胞形态学分析的7例患儿中,4例病态造血累及三系,其中红系病态造血发生率为100%(7/7),粒系病态造血发生率为71%(5/7),巨核系病态造血发生率为57%(4/7)。免疫分型中髓系抗原主要表达CD13、CD33、CD117、CD38、CD123,分别有4例和2例表达红系抗原CD71和CD235a。染色体核型分析示2例为异常染色体核型,核型异常涉及+81例,+4伴+61例,未见复杂染色体核型。4例检测出基因异常,融合基因涉及dup MLL阳性、EVI1阳性各1例,突变基因涉及KRAS、NRAS、WT1及UBTF突变。7例进行化疗,1个疗程化疗后6例达到缓解,其中2例行造血干细胞移植,目前均无病存活中。随访(中位随访时间6个月)显示,仅有3例存活(2例为造血干细胞移植后,1例治疗中)。结论儿童AEL具有独特的临床及生物学特征,对治疗反应不佳,预后差,造血干细胞移植或可提高其整体生存率。Objective To investigate the clinical characteristics and prognosis of acute erythroleukemia(AEL)in children.Methods A retrospective analysis was conducted on the clinical data,treatment,and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.Results Among the 7 patients with complete bone marrow morphological analysis,4 exhibited trilineage dysplasia,with a 100%incidence of erythroid dysplasia(7/7),a 71%incidence of myeloid dysplasia(5/7),and a 57%incidence of megakaryocytic dysplasia(4/7).Immunophenotyping revealed that myeloid antigens were primarily expressed as CD13,CD33,CD117,CD38,and CD123,with 4 cases expressing erythroid antigens CD71 and 2 cases expressing CD235a.Chromosomal analysis indicated that 2 cases presented with abnormal karyotypes,including+8 in one case and+4 accompanied by+6 in another;no complex karyotypes were observed.Genetic abnormalities were detected in 4 cases,with fusion genes including one case each of dup MLL positive and EVI1 positive,as well as mutations involving KRAS,NRAS,WT1,and UBTF.Seven patients received chemotherapy,with 6 achieving remission after one course of treatment;2 underwent hematopoietic stem cell transplantation,and all had disease-free survival.Follow-up(median follow-up time of 6 months)showed that only 3 patients survived(2 cases after hematopoietic stem cell transplantation and 1 case during treatment).Conclusions Children with AEL have unique clinical and biological characteristics,exhibit poor treatment response,and have a poor prognosis;however,hematopoietic stem cell transplantation may improve overall survival rates.

关 键 词：急性红白血病 临床特征 预后 儿童 

分 类 号：R733.71[医药卫生—肿瘤]