幼年型粒单核细胞白血病2例报道及文献复习  

Report of two cases of juvenile myelomonocytic leukemia and review of literature

作　　者：陈乐[1] 黄婷[2] 谢梦琦 陆文丽[1] 马晓宇[1] 王歆琼[1] 许春娣[1] 李卫[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院儿内科,上海200025 [2]上海交通大学医学院附属瑞金医院上海血液研究所,上海200025

出　　处：《诊断学理论与实践》2015年第3期235-238,共4页Journal of Diagnostics Concepts & Practice

基　　金：上海交通大学医学院基金(131022000011114)

摘　　要：目的 :探讨幼年型粒单核细胞白血病(juvenile myelomonocytic leukemia,JMML)患儿的临床特点及基因突变分析,以提高对该病的诊断水平。方法:观察2例JMML患儿的临床特点、诊治情况,分析其基因突变情况,并结合文献进行探讨。结果:2例患儿均为男童,主要临床表现为感染、皮疹及血象异常等,通过基因分析发现NF1基因10、13号外显子存在无义或插入突变及N-RAS基因突变,对此类疾病具有诊断意义。结论 :JMML患儿的临床及实验室检查均缺乏特征性,目前基因检测是该诊断疾病的重要依据。Objective： To study the clinical characteristics of juvenile myelomonocytic leukemia（JMML） and analyze the gene mutation for improving the level of diagnosis. Methods： Two cases of JMML were observed for their clinical symptoms, diagnosis and treatment, and gene mutation was analyzed. Results： Main clinical manifestations of the two boy patients were characterized by infection, rash and abnormal blood examination. Exon13 and Exon10 nonsense or insertion mutation of NF1 gene and mutation of N-RAS gene were found. Conclusions： Clinical manifestations and blood examination of JMML are lack of specific characterization, analysis of gene mutation is important for diagnosis of JMML.

关 键 词：幼年型粒单核细胞白血病 基因诊断 基因突变 

分 类 号：R541.7[医药卫生—心血管疾病]