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目的探讨FMS样酪氨酸激酶3(FLT3)基因的内部串联复制(ITD)及激酶结构域(TKD)点突变在儿童急性髓系白血病(AML)中的临床意义。方法通过实时定量PCR法对116名初诊AML儿童进行骨髓FLT3/ITD及FLT3/TKD突变检测,分析FLT3/ITD及FLT3/TKD突变与AML临床特征、疗效之间的关系。结果 116名患儿中,伴有FLT3/ITD及FLT3/TKD突变分别为9例(7.8%)、13例(11.2%)。3例AML-M3(3/9,33.3%)及3例AML-M5(3/9,33.3%)患儿出现FLT3/ITD突变;FLT3/TKD突变以AML-M3最多见(10/13,76.9%)。伴FLT3/ITD突变患儿较不伴该突变的患儿初诊时具有更高的白细胞及骨髓幼稚细胞比例(P<0.01)。伴FLT3/ITD突变患儿3年总生存率明显低于不伴该突变患儿(38.9%vs 64.3%,P<0.05)。结论 FLT3/TKD突变多见于儿童AML-M3患者;伴FLT3/ITD突变患儿初诊时具有更高的白细胞及骨髓幼稚细胞比例,且预后更差。
Objective To investigate the clinical significance of in-line tandem duplication (ITD) and kinase domain (TKD) mutation of FMS-like tyrosine kinase 3 (FLT3) gene in childhood acute myeloid leukemia (AML). Methods The bone marrow FLT3 / ITD and FLT3 / TKD mutations were detected by real-time PCR in 116 newly diagnosed AML children. The relationship between FLT3 / ITD and FLT3 / TKD mutations and the clinical features and therapeutic effect of AML were analyzed. Results Among the 116 children, FLT3 / ITD and FLT3 / TKD mutations were found in 9 (7.8%) and 13 (11.2%) patients, respectively. FLT3 / ITD mutations were found in 3 cases of AML-M3 (3 / 9,33.3%) and 3 cases of AML-M5 (3 / 9,33.3% 76.9%). Children with FLT3 / ITD mutation had higher rates of leukocytes and bone marrow neutrophils (P <0.01) when compared with those without FLT3 / ITD mutation. The 3-year overall survival in children with FLT3 / ITD mutation was significantly lower than that in children without this mutation (38.9% vs 64.3%, P <0.05). Conclusions The FLT3 / TKD mutation is more common in children with AML-M3. The children with FLT3 / ITD mutation have a higher proportion of leukocytes and bone marrow neutrophils at initial diagnosis, and the prognosis is even worse.