Ruan Min, Wang Ya-Qin, Zhang Li, Liu Tian-Feng, Liu Fang, Liu Xiao-Ming, Zhang Jia-Yuan, Zou Yao, Chen Yu-Mei, Zhu Xiao-Fan
Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences, Tianjin, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2011 Nov;13(11):863-6.
To study the clinical significance of FMS-like tyrosine kinase 3 (FLT3) mutations including internal tandem duplication (ITD) mutation and point mutation of tyrosine kinase domain (TKD) in children with acute myeloid leukemia (AML).
Bone marrow samples from 116 children with newly-diagnosed AML were obtained. Gene mutations of FLT3/ITD and FLT3/TKD were detected by RT-PCR. The relationship of FLT3 gene mutations with the clinical characteristics and the therapeutic efficacy was observed.
FLT3/ITD and FLT3/TKD mutations were detected in 9 cases (7.8%) and 13 cases (11.2%) respectively out of the 116 children. FLT3/ITD mutations were observed in 3 cases of AML-M3 (3/9; 33.3%) and in 3 cases of AML-M5 (3/9; 33.3%). FLT3/TKD mutations were the most common in AML-M3 patients (10/13; 76.9%). The patients with FLT3/ITD mutations had a significantly higher peripheral WBC count and marrow blast percentage compared with the patients without FLT3/ITD mutations at diagnosis (P<0.01). The 3-year overall survival rate in patients with FLT3/ITD mutations was significantly lower than that in patients without FLT3/ITD mutations (38.9% vs 64.3%; P<0.05).
FLT3/TKD mutations are common in children with AML-M3. The AML children with FLT3/ITD mutations present a high peripheral WBC count and a high marrow blast percentage at diagnosis and have an unfavorable outcome.
研究急性髓系白血病(AML)患儿中FMS样酪氨酸激酶3(FLT3)突变的临床意义,包括内部串联重复(ITD)突变和酪氨酸激酶结构域(TKD)点突变。
获取116例新诊断AML患儿的骨髓样本。采用逆转录聚合酶链反应(RT-PCR)检测FLT3/ITD和FLT3/TKD基因突变。观察FLT3基因突变与临床特征及治疗疗效的关系。
116例患儿中,分别检测到9例(7.8%)FLT3/ITD突变和13例(11.2%)FLT3/TKD突变。在3例AML-M3(3/9;33.3%)和3例AML-M5(3/9;33.3%)中观察到FLT3/ITD突变。FLT3/TKD突变在AML-M3患者中最为常见(10/13;76.9%)。诊断时,FLT3/ITD突变患者的外周血白细胞计数和骨髓原始细胞百分比显著高于无FLT3/ITD突变患者(P<0.01)。FLT3/ITD突变患者的3年总生存率显著低于无FLT3/ITD突变患者(38.9%对64.3%;P<0.05)。
FLT3/TKD突变在AML-M3患儿中常见。FLT3/ITD突变的AML患儿在诊断时外周血白细胞计数高、骨髓原始细胞百分比高,预后不良。