伴染色体异常的非重型再生障碍性贫血患儿临床及预后分析  

Analysis of clinical characteristics and prognosis of non-severe aplastic anemia children with chromosomal abnormalities

作　　者：朱帅[1] 安文彬[1] 万扬[1] 任媛媛[1] 张然然[1] 章婧嫽 刘超[1] 孙聪聪[1] 常丽贤[1] 陈晓娟[1] 杨文钰[1] 郭晔[1] 陈玉梅[1] 邹尧[1] 竺晓凡[1] 

机构地区：[1]中国医学科学院北京协和医学院血液病医院(血液学研究所)儿童血液病诊疗中心,天津300020

出　　处：《中华儿科杂志》2016年第11期814-818,共5页Chinese Journal of Pediatrics

基　　金：国家自然科学基金（81170470）

摘　　要：目的 分析符合非重型再生障碍性贫血（NSAA）临床特征,并伴染色体异常患儿的临床特征及预后.方法 回顾性分析304例2001至2014年就诊于中国医学科学院血液病医院（血液病研究所）的符合NSAA临床特征且具有可分析的染色体核型结果的患儿的临床资料,采用x2检验对治疗反应等进行分析,采用Kaplan-Meier法进行生存预后分析.结果 304例符合NSAA临床特征患儿中有28例伴染色体核型异常,8号染色体三体异常7例（25.0％）,7号染色体异常5例（17.9％）,其他染色体异常16例（57.1％）.伴有和不伴有染色体异常患儿在治疗反应率[40.9％（9/22）比58.6％（119/203）,x2=2.539,P=0.111]、脱离血制品输注率[54.5％ （6/11）比65.0％（39/60）,x2=6.455,P=0.086]、5年无进展生存率（49.2％比70.8％,x2=0.849,P=0.357）及5年累积生存率（79.1％比92.8％,x2=0.330,P=0.556）方面差异无统计学意义.伴有与不伴有染色体异常的患儿疾病进展率[41.7％ （10/24）比22.3％ （48/215）,x2=4.394,P=0.045]、骨髓增生异常综合征（MDS）或急性髓系白血病（AML）发生率[20.8％（5/24）比0.9％（2/215）,x2=30.082,P=0.000]、5年累积AML或MDS发生率（33.4％比0.8％,x2=17.798,P=0.000）方面差异有统计学意义.结论 符合NSAA临床特征患儿染色体异常发生率9.2％,伴染色体异常的患儿与不伴染色体异常患儿临床特征及治疗反应相似,但伴有染色体异常的患儿较不伴染色体异常患儿预后差,更容易进展为MDS或AML.Objective To analyze the clinical characteristics and prognosis of non-severe aplastic anemia （NSAA） with chromosomal abnormalities in children.Method A retrospective analysis of 304 cases with NSAA with successful karyotyping from 2001 to 2014 in the Institute of Hematology ＆amp; Blood Disease Hospital was carried out.The treatment response,condition of blood transfusion were analyzed using x2 test,the cumulative survival was estimated by the Kaplan-Meier method.Result Out of 304 patients,28 patients had chromosomal abnormalities with trisomy 8 （7 cases,25.0%）,abnormalities in chromosome 7 （5 cases,17.9%）,and other types （16 cases,57.1%）.There were no significant differences in the treatment response （40.9% （9/22） vs.58.6% （119/203）,x2 =2.539,P =0.111）,the rate of getting rid of blood transfusion （54.5% （6/11） vs.65.0% （39/60）,x2 =6.455,P =0.086）,five-year progression-free survival （49.2% vs.70.8%,x2 =0.849,P =0.357）,and five-year cumulative survival （79.1% vs.92.8%,x2 =0.330,P =0.556） between the patients with or without chromosomal abnormalities.There were significant differences in the rate of disease progression（41.7% （10/24） vs.22.3% （48/215）,x2 =4.394,P =0.045）,the incidence of myelodysplastic syndrome （MDS） or acute myeloid leukemia （AML） （20.8 % （5/24） vs.0.9% （2/215）,x2 =30.082,P =0.000） and the five-year cumulative incidence of MDS or AML （33.4% vs.0.8%,x2 =17.798,P =0.000） between children with and without chromosomal abnormalities.Conclusion The incidence of chromosomal abnormalities in children with NSAA is 9.2%.The clinical features and treatment response are similar,but children with chromosomal abnormalities have a poorer prognosis,and have higher risk of progressing to MDS or AML.

关 键 词：贫血 再生障碍性 细胞遗传学 预后 儿童 

分 类 号：R725.5[医药卫生—儿科]