FLT3基因突变与IL-3受体α在急性髓系白血病的表达意义

FLT3 Gene Mutation and IL-3Rα mRNA Expression in Acute Myeloid Leukemia and its Clinical Implication

目的研究FLT3基因突变与IL-3受体α(IL-3Rα)在急性髓性细胞白血病(AML)的表达及临床意义。方法采用RT-PCR及限制性片段长度多态性(RFLP)分析检测20例AML患者IL-3Rα的表达水平及FLT3/ITD与D835突变。结果20例中IL-3Rα高表达18例,FLT3/ITD突变7例,D835突变1例,总突变率44.4%,对照组未检测到FLT3/ITD突变。高表达IL-3Rα与FLT3/ITD阳性患者外周血白细胞计数高,白血病细胞比例高,完全缓解率低。结论IL-3Rα高表达和FLT3基因突变均赋予急性髓系白血病细胞增殖优势,检测两者水平对于评价AML患者疗效、估计预后具有重要意义。

Objective To evaluate the prevalence of FLT3 gene mutation and IL-3Rα expression in patients with acute myeloid leukemia（AML） and its clinical significance. Methods Reverse transcription polymerase chain reaction （RT- PCR） and restriction fragment length polymorphism（RFLP） were applied to determine IL-3Rα mRNA expression and FLT3/ITD and D835 mutation in 20 AML patients. Results Upregulation of IL-3Rα mRNA were detected in 18 of 20 patients with AML compared to healthy controis. FLT3/ITDs were detected in 7（35.0%） of 20 AML patients. D835 point mutation was detected in 1 patient. No FLT3/ITD was detected in healthy controls. IL-3Rα mRNA upregulation and FLT3 mutation were associated with a higher peripheral white blood cell count and a higher percentage of peripheral blast cells. The complete remission （CR） rate was lower in AML patients with FLT3 mutation and IL-3Rα mRNA upregulation. Conclusion In addition to the FLT3 mutations, IL-3Rα overexpression may contribute the proliferative activity on leukemic blasts. The detection of FLT3 mutation and IL-3Rα mRNA expression will be valuable in therapeutic efficacy evaluation and prognostic assessment in AML patients.