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 investigate the clinical features and gene mutation in children with juvenile myelomonocytic leukemia (JMML) to improve the diagnosis of the disease. Methods: The clinical features, diagnosis and treatment of 2 cases of JMML were observed. The gene mutation was analyzed. Results: The two cases were all boys. The main clinical manifestations were infection, skin rash and blood abnormalities. Gene exon 10 and exon 10 of NF1 gene were found to be nonsense or inserted mutation and N-RAS gene mutation by gene analysis. Diseases have diagnostic significance. Conclusion: The clinical and laboratory tests of JMML children lack characterization. Currently, genetic testing is an important basis for the diagnosis of the disease.