摘要
目的探索BCL2L12基因在急性髓系白血病（acute myeloid leukemia，AML）细胞中的表达水平及其临床意义。方法用实时定量PCR检测134例初发AMI。患者白血病细胞中BCL2L12基因的表达水平，收集临床和实验室资料进行统计分析。结果在134例初发AML患者和49名正常对照中均检测到BCL2L12基因的表达。初发AMI。患者表达中位数为0．1029（0．0119～26．4090），显著低于正常对照[中位数0．2677（0．0173～1．2858），P％0．01]。BCL2L12基因低表达者FLT3-ITD的突变率（27％）高于高表达者（5％，P=0．036）。复发难治者BCL2L12基因的表达水平[（中位数0．0873（O．0119～9．2000）]显著低于初发组[中位数0．1359（0．0286～26．4091），P=0．014]。在随访的114例患者中，BCL2L12基因高表达组与低表达组的总体生存时间（overall survival，OS）差异无统计学意义（P〉0．05），但在核型正常的AMI，患者中，BCL2L12基因低表达组的OS显著短于高表达组（P=0．037）。结论BCL2L12基因在初发AMI。患者中普遍低表达。低表达者FLT3-ITD的突变率较高且多为难治型AML。核型为正常的患者中，BCL2L12基因低表达者OS短于高表达者。BCL2L12基因低表达可能作为核型正常的AML患者预后不良的指标。
Objective To explore the expression of BCL2L12 gene and its clinical significance for de novo acute myeloid leukemia （AML）. Method Real-time quantitative PCR （RQ-PCR） was employed to measure the expression of BCL2L12 gene in 134 patients with de novo AML. The results were correlated with clinical features of patients. Results BCL2L]2 gene transcript was determined for 134 AML patients and 49 healthy controls, with the median levels measured 0. 1029 （0. 0119-26. 4090） and 0. 2677 （0. 0173- 1. 2858）, respectively. There was a significant difference in the strength of BCL2L12 gene expression between patients and normal controls （P〈0.01）. Those with lower BCL2L]2 expression levels had a higher FLT3-ITD mutation rate compared with those with higher levels （27% vs. 5%, P=0. 036）. Relapsed or refractory AML patients had lower expression compared with newly diagnosed patients （0. 0873 vs. 0. 1359, P：0. 014）. There was no difference in overall survival （OS） between patients with higher and lower expression levels. However, for AML patients with a normal karyotype, the OS for those with lower expression was significant shorter （P=0. 037）. Conclusion De novo AML patients have a lower level of I3CL2L12 gene expression. AML patients with lower BCL2L12 expression have a higher FLT3-ITD mutation rate, and most of them are relapse or refractory patients. In addition, among patients with a normal karyotype, those with a lower BCL2L12 expression have a shorter OS. Therefore, expression of the BCL2L12 gene may be used as a prognostic marker for AML patients with a normal karyotype.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第5期544-548,共5页
Chinese Journal of Medical Genetics
基金
卫生公益性行业科研专项经费项目（201202017）
