急性髓系白血病患者FMS样酪氨酸激酶3基因内部串联重复突变的检测及其临床意义

Detection of FMS-like tyrosine kinase 3 internal tandem duplication in acute myeloid leukemia patients and its clinical significance

目的 分析急性髓系白血病（AML）患者骨髓FMS样酪氨酸激酶3基因内部串联重复（FLT3／ITD）突变情况.方法 采用聚合酶链反应方法检测96例初发AML患者FLT3／ITD突变,分析FLT3／ITD阳性患者的临床特征.结果 96例AML患者中FLT3／ITD突变18例（18.8％）.其中M22例,M3 11例,M42例,M53例.FLT3／ITD阳性AML患者初发时外周血白细胞计数中位数为18.0×109／L（3.6× 109～ 137.6×109/L）,FLT3／ITD阴性AML患者为6.3×109/L（4.5×109 ～ 113.0×109/L）,两组比较差异有统计学意义（t=3.04,P＜0.05）.FLT3／ITD阳性者随访16例,中位随访时间10个月（6～ 15个月）,13例处于第1次完全缓解.诱导缓解率为81.3％（13／16）.结论 FLT3／ITD是AML患者常见的基因突变,FLT3／ITD阳性患者白细胞计数较高.

Objective To analyze the mutations of FMS-like tyrosine kinase 3 internal tandem duplication （FLT3/ITD） in bone marrow cells of patients with newly-diagnosed acute myeloid leukemia （AML）.Methods The mutations of FLT3/ITD in 96 AML cases were detected by polymerase chain reaction （PCR）and the clinical features of FLT3/ITD positive patients were analyzed.Results FLT3/ITD mutations were identified in 18 patients （18.8 ％）,2 cases were M2,11 cases were M3,2 cases were M4,3 cases were Ms.Patients with FLT3/ITD mutations presented higher initial white blood cell count than that of patients without FLT3/ITD mutations [18.0×109/L （3.6×109-137.6×109/L） vs 6.3×109/L （4.5×109-113.0×109/L）,t =3.04,P ＜ 0.05].Out of FLT3/ITD positive patients,13/16 （81.3 ％） obtained complete remission and 13 patients remained in first remission in a median follow-up of 10 months（6-15 months）.Conclusion The mutations of FLT3/ITD are frequently identified in newly-diagnosed AML patients,patients with FLT3/ITD mutations present high white blood cell count.