中国当代儿科杂志Issue(1)：1-5,5.DOI:10.7499/j.issn.1008-8830.2015.01.001
儿童幼年型粒单核细胞白血病突变基因型与临床特征分析
Gene mutations and clinical characteristics in children with juvenile myelomonocytic leukemia
摘要
Abstract
Objective To study gene mutations and clinical features in children with juvenile myelomonocytic leukemia (JMML). Methods The clinical data of 14 children who were diagnosed with JMML and were examined for the detection of common gene mutations were retrospectively analyzed. Results Eleven (79%) out of 14 cases were male, and 3 (21%) were female. The median age at diagnosis was 2.0 years (age range:0.6-6.0 years). Among 14 cases, there were 4 cases (29%) with PTPN11 mutation, 3 cases (21%) with N-RAS mutation, 1 case (7%) with PTPN11 mutation and K-RAS mutation, and 6 cases (43%) without any mutation. All four cases in the PTPN11 mutation group were male, and their median age was 2.5 years;interval from onset to diagnosis was 1.0 month;the white blood cell (WBC) count and absolute monocytes in peripheral blood were signiifcantly higher, while the platelet (PLT) count was lower, as compared with the other three groups;they were followed up, and 3 cases died and 1 case had a progressive disease. In the N-RAS mutation group, there were two male cases and one female case, and their median age was 2.0 years;interval from onset to diagnosis was 13.7 months;after follow-up, 2 cases died and 1 case did not have an obviously progressive disease. Conclusions PTPN11 mutation is the most common mutation in JMML. The cases with PTPN11 mutation often have higher WBC count and absolute monocytes in peripheral blood, a lower PLT count, and a rapid disease progression, and their clinical outcomes are poor. The cases with N-RAS mutation have a slow disease progression. The clinical characteristics of the patients with compound mutations are not sure because of the small number of cases, and further clinical observation is indispensable.关键词
幼年型粒单核细胞白血病/突变基因/临床特征/儿童Key words
Juvenile myelomonocytic leukemia/Gene mutation/Clinical characteristics/Child引用本文复制引用
杨文钰,陈晓娟,王书春,郭晔,刘天峰,常丽贤,刘芳,竺晓凡..儿童幼年型粒单核细胞白血病突变基因型与临床特征分析[J].中国当代儿科杂志,2015,(1):1-5,5.基金项目
国家自然科学基金（81300393，81300394）。 （）
