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淋巴增强因子1(1ymphoid enhancer factor 1,LEF1)是Wingless-type(Wnt)信号通路中的重要转录因子。本研究旨在探讨成人急性淋巴细胞白血病(acute Lymphocytic Leukemia,ALL)中LEF1基因突变、表达特征及其临床意义。采用基因组DNA扩增、测序和荧光定量PCR等方法研究131例初发成人ALL患者中LEF1基因突变和表达,及其与临床预后参数和生存时间的相关性。结果显示,本组131例成人ALL患者中LEF1突变率3.1%(4/131),均为点突变(位于外显子2和3);初诊时外周血中位白细胞计数和中位原始幼稚淋巴细胞百分比在LEF1高表达组明显高于低表达组(70.6×109/L vs 26.2×109/L,P=0.010;81.0%vs 57.0%,P=0.014);费城染色体阳性ALL和高危患者比例LEF1高表达组显著高于低表达组(66.7%vs 36.5%,P=0.038;79.2%vs 56.2%,P=0.044)。结论:LEF1高表达在成人ALL的发病机制中可能具有重要意义。
1ymphoid enhancer factor 1 (LEF1) is an important transcription factor in the Wingless-type (Wnt) signaling pathway. The purpose of this study was to investigate the mutation and expression of LEF1 gene in adult patients with acute lymphoblastic leukemia (ALL) and its clinical significance. The mutation and expression of LEF1 gene in 131 patients with primary ALL were studied by genomic DNA amplification, sequencing and real-time PCR, and their relationship with clinical prognostic parameters and survival time were also studied. The results showed that 131 cases of ALL patients in this group of LEF1 mutation rate of 3.1% (4/131), are point mutations (located in exons 2 and 3); first visit peripheral blood leukocyte counts and median naive lymph nodes The percentage of cells in LEF1-overexpression group was significantly higher than that in the low expression group (70.6 × 109 / L vs 26.2 × 109 / L, P = 0.010; 81.0% vs 57.0%, P = 0.014) The high expression group was significantly higher than the low expression group (66.7% vs 36.5%, P = 0.038; 79.2% vs 56.2%, P = 0.044). Conclusion: The high expression of LEF1 may play an important role in the pathogenesis of adult ALL.