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[急性髓系白血病患儿的FLT3突变:一项单中心研究]

[FLT3 mutations in children with acute myeloid leukemia: a single center study].

作者信息

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

机构信息

Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences, Tianjin, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2011 Nov;13(11):863-6.

Abstract

OBJECTIVE

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).

METHODS

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.

RESULTS

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).

CONCLUSIONS

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.

摘要

目的

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。

方法

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。

结果

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)。

结论

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。

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