幼年型粒单核细胞白血病7例临床分析  

Clinical analysis of seven cases of juvenile myelomonocytic leukemia

作　　者：郭佳 赵东菊[1] 田运娇[1] 李培岭[1] 肖爱菊[1] 马岩岩 石太新[1] Guo Jia;Zhao Dongju;Tian Yunjiao;Li Peiling;Xiao Aiju;Ma Yanyan;Shi Taixin(Department of Pediatrics,The First Affiliated Hospital of Xinxiang Medical University,Xinxiang 453100,Henan Province,China)

机构地区：[1]新乡医学院第一附属医院儿科,新乡453100

出　　处：《中国基层医药》2022年第5期674-678,共5页Chinese Journal of Primary Medicine and Pharmacy

基　　金：河南省医学科技攻关项目(201702122)。

摘　　要：目的分析幼年型粒单核细胞白血病(JMML)的临床特征,探讨该病的诊治特点。方法回顾性分析新乡医学院第一附属医院2015年4月至2020年2月收治的JMML患儿7例的临床资料,随访不同治疗方案的临床疗效。结果7例JMML患儿中位诊断年龄8个月4 d;发热是主要就诊原因,多伴肝脾肿大。外周血白细胞中位值36.1×10^(9)/L,单核细胞中位值4.5×10^(9)/L,血红蛋白中位值88 g/L,血小板中位值47×10^(9)/L。6例外周血涂片可见髓系幼稚细胞。染色体检查:1例为-7单体,6例为正常核型。6例胎儿血红蛋白增高。基因检测4例:1例PTPN11+NF1突变,2例N-RAS突变,1例K-RAS突变。3例放弃治疗,3例接受低强度化疗,均因合并感染死亡;1例接受异基因造血干细胞移植,随访14个月仍无事件生存。结论JMML发病年龄小,临床特异性差,基因检测有助于早期诊断,低强度化疗可延长生存期但不能改善预后,感染为主要死亡原因,造血干细胞移植是唯一可能治愈该病的方法。Objectives To analyze the clinical features of juvenile myelomonocytic leukemia(JMML)and investigate the characteristics of diagnosis and treatment of this disease.Methods The clinical data of seven children patients with JMML who received treatment in The First Affiliated Hospital of Xinxiang Medical University between April 2015 and February 2020 were retrospectively analyzed.The clinical efficacy of different treatments was analyzed.Results The median age at diagnosis of JMML was 8 months and 4 days for seven children patients.Fever was the principal cause of treatment,and it was mostly accompanied by hepatosplenomegaly.The median value of peripheral blood leukocyte count was 36.1×10^(9)/L,and it was 4.5×10^(9)/L for mononuclear cell count,88 g/L for hemoglobin level,and 47×10^(9)/L for platelet count.Myeloid immature cells were found in peripheral blood smears of six patients.Chromosome examination results revealed 7-monomer in one patient,and normal karyotype in six patients.Hemoglobin level was increased in six patients.Gene detection results revealed PTPN11+NF1 mutation in one patient,N-RAS mutation in two patients,and K-RAS mutation in one patient.Three patients gave up treatment,three patients received low-intensity chemotherapy,and these six patients died of complicated infection.One patient received allogeneic hematopoietic stem cell transplantation and the patient survived without any event after 14 months of follow-up.Conclusion The age of JMML onset is low.JMML has poor clinical specificity.Gene detection is helpful for early diagnosis of JMML.Low-intensity chemotherapy can prolong survival period,but it can not improve prognosis.Infection is the principal cause of death in patients with JMML.Hematopoietic stem cell transplantation is the only possible method to cure the disease.

关 键 词：白血病 粒-单核细胞 幼年型 诊断 基因 抑制 抗肿瘤联合化疗方案 造血干细胞移植 感染 预后 儿童 

分 类 号：R733.7[医药卫生—肿瘤]