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目的分析急性早幼粒细胞白血病(APL)患者骨髓细胞 FLT3基因内部串联重复(ITD)突变情况。方法采用 PCR 方法分析103例初发 APL 患者骨髓单个核细胞 FLT3基因的 ITD突变,分析 ITD 阳性患者的临床特征。结果 103例初发 APL 患者 FLT3-ITD 突变20例(19.4%)。FLT3-ITD 阳性与 PML-RARα融合基因短型和变异型异构体密切相关,FLT3-ITD 阳性患者中 PML-RARα融合基因短型16例,变异型2例,长型2例(P<0.0001)。FLT3-ITD 阳性患者外周血 WBC 高于 FLT3-ITD 阴性患者(P<0.01),其中 PML-RARα短型和(或)变异型伴 FLT3-ITD 阳性患者 WBC 明显高于 FLT3-ITD 阴性患者(P=0.015)。而 PML-RARα长型伴 FLT3-ITD 阴性患者与阳性患者 WBC比较,差异无统计学意义。FLT3-ITD 阳性 APL 患者的诱导缓解率为90%,随访16例(2例失访),中位随访时间26(11～47)个月,均处于第1次完全缓解。结论 FLT3-ITD 是 APL 患者常见的基因突变,其发生与 PML-RARα短型和变异型相关。伴 FLT3-ITD 阳性 PML-RARα短型和变异型与发病时 WBC增高具有相关性,而对近期疗效无明显影响。
Objective To analyze the internal tandem duplication (ITD) mutations of FLT3 gene in patients with acute promyelocytic leukemia (APL). Methods The ITD mutation of FLT3 gene in bone marrow mononuclear cells of 103 newly diagnosed APL patients was analyzed by PCR. The clinical features of ITD positive patients were analyzed. Results The FLT3-ITD mutations in 103 patients with initial APL were detected in 20 patients (19.4%). The FLT3-ITD positive was closely related to the short and variant isoforms of PML-RARα fusion gene. There were 16 cases of PML-RARα fusion gene in FLT3-ITD positive patients, 2 cases of variant and 2 cases of long form (P <0.0001 ). The WBC in FLT3-ITD positive patients was higher than that in FLT3-ITD negative patients (P <0.01). WBC in PML-RARα short and / or variant FLT3-ITD positive patients was significantly higher than that in FLT3-ITD negative patients = 0.015). The PML-RARα long with FLT3-ITD negative patients and positive patients WBC comparison, the difference was not statistically significant. The induction of remission rate in FLT3-ITD positive APL patients was 90%. Follow-up was performed in 16 patients (2 patients lost to follow-up) and the median follow-up time was 26 (11 to 47) months. Conclusion FLT3-ITD is a common gene mutation in patients with APL. The occurrence of FLT3-ITD is associated with short and variant PML-RARα. With FLT3-ITD positive PML-RARα short and variant and the incidence of increased WBC has a correlation, but no significant effect on the short-term effect.