摘要
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 mutation of FLT3 internal tandem duplication （FLT3-ITD） in bone marrow cells from patients with newly-diagnosed acute promyelocytic leukemia （APL）. Methods The mutation of FLT3-ITD in bone marrow mononuclear cells （MNCs） from 103 APL patients were screened by polymerase chain reaction （PCR） and the clinical features of ITD positive patients were analyzed. Results FLT3-ITD mutations were identified in 19.4% （20/103） patients. It was associated with short/variant form of PML-RARα isoforms （ P 〈 0. 0001 ）. Among the 20 patients with FLT3-ITD mutation, 16 presented with short, 2 with variant and 2 with long form of PML-RARα isoforms. Patients with FLT3-ITD mutation also presented significantly higher initial peripheral white blood cell count （ WBC ） （ P 〈 0.01 ） , especially in those with short/variant PML-RARα isoforms （P = 0. 015 ）. For patients with long form PML-RARα, there was no significant difference in initial WBC. Out of FLT3-ITD positive patients, 18/20 （ 90% ） obtained complete remission and 16 evaluable patients （2 lost follow-up） remained in first remission in a median follow-up of 26（ 11 -47） months. Conclusion FLT3-ITDs are frequently identified in patients with newly diagnosed APL. FLT3-ITD mutation is associated with short/variant form of PML-RARα fusion gene and higher initial WBC. No significant impact on treatment outcome was observed with a limited follow-up.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2007年第6期371-374,共4页
Chinese Journal of Hematology
基金
国家自然科学基金青年基金(C03030202)
上海优秀青年医学人才计划资金
