Yang Wen-Yu, Chen Xiao-Juan, Wang Shu-Chun, Guo Ye, Liu Tian-Feng, Chang Li-Xian, Liu Fang, Zhu Xiao-Fan
Diagnostic and Therapeutic Center of Children's Blood Disease, Institute of Hematology, Blood Disease Hospital, Chinese Academy of Medical Science, Tianjin 300020, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):1-5.
To study gene mutations and clinical features in children with juvenile myelomonocytic leukemia (JMML).
The clinical data of 14 children who were diagnosed with JMML and were examined for the detection of common gene mutations were retrospectively analyzed.
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 significantly 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.
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.
研究青少年粒单核细胞白血病（JMML）患儿的基因突变及临床特征。
回顾性分析14例诊断为JMML并检测常见基因突变的患儿的临床资料。
14例中男性11例（79%），女性3例（21%）。诊断时的中位年龄为2.0岁（年龄范围：0.6 - 6.0岁）。14例中，4例（29%）存在PTPN11突变，3例（21%）存在N - RAS突变，1例（7%）同时存在PTPN11突变和K - RAS突变，6例（43%）无任何突变。PTPN11突变组的4例均为男性，中位年龄为2.5岁；起病至诊断间隔为1.0个月；外周血白细胞（WBC）计数和绝对单核细胞数显著高于其他三组，而血小板（PLT）计数较低；对其进行随访，3例死亡，1例病情进展。N - RAS突变组有2例男性和1例女性，中位年龄为2.0岁；起病至诊断间隔为13.7个月；随访后，2例死亡，1例无明显病情进展。
PTPN11突变是JMML中最常见的突变。存在PTPN11突变的病例外周血WBC计数和绝对单核细胞数常较高，PLT计数较低，疾病进展迅速，临床预后较差。存在N - RAS突变的病例疾病进展缓慢。由于病例数少，复合突变患者的临床特征尚不确定，进一步的临床观察不可或缺。
