急性髓系白血病患者骨髓中Set基因表达与预后的关系

Study on relationship between Set gene expression and clinical manifestations in bone marrow of patients with acute myelogenous leukemia

目的探讨在急性髓系白血病（AML）患者骨髓中Set基因的表达及其意义，并分析其对预后的影响。方法采用实时定量PCR方法检测59例AML患者和20名对照样本骨髓中Set基因的表达；采用测序方法检测59例AML患者c—kit8／17、NPM1、FLT3-TKD／ITD、CEBPa基因突变。结果Set基因在AML患者骨髓中的表达水平较高[1．41（0．41～3．31）]；Set基因表达水平与AML患者的性别、年龄、白细胞计数、血红蛋白水平、血小板计数、FAB分型及NPM1、C—Kit8／17、CEBPa、FLT3-ITD／TKD等基因突变无相关性（均P〉0．05）；Set基因表达水平与AML患者的骨髓原始细胞比例、完全缓解率呈相关性（P=0．04，P〈0．001），Set基因高表达患者2个疗程完全缓解率低于Set基因低表达患者（32．1％比83．9％，P〈0．001）；单因素及多因素分析显示Set基因高表达患者有较差总生存时间[4（2～15）个月，P=0．021]和无事件生存时间[3（2～13）个月，P=0．017]，表明Set基因可能是AML患者的不良预后分子标志之一。结论骨髓中SET基因表达水平在AMI．发病中可能发挥重要作用，有助于进一步完善AML患者预后评估，并作为判断AML预后的分子标志。

Objective To explore the expression and significance of Set gone in Acute myeloid leukemia （AML） patients ,and to analyze its effect for the prognosis of AML. Methods The level of Set gene expression was detected by real-time PCR in 59 AML patients and 20 heathy people. The mutations in C-kit 8/17 gene, NPMI gene and FLT3-TKD/ITD gene in 59 AML patients were detected by direct sequencing. Results The level of Set gene expression [ 1.41 （0. 41 - 3.31 ） ] was significantly higher in 59 AML patients. The expression of Set gene was correlated with the percentage of marrow blasts and CR in AML patients （P = 0. 040 ,P 〈 0. 001 ） ; the CR rate of Set gene high expression group was significantly lower than that of Set gene low expression group （32. 1% vs 83.9%, P= 0. 01 ）. In the intermediate-risk of AML patients with chromosome karyotype analysis, the CR rate of Set gene high expression group and low expression group were 34. 8% and 88.9% , and there are significantly different between two groups （P 〈 0. 001 ） ; univariate and multivariate analysis showed that Set gene high expression group correlated with poor OS[4（2 - 15）monthsl and EFS[3（2 - 13） monthsj ） （P =0. 021 ,P =0. 017）. It suggests that the Set gene maybe one of AML independent poor prognostic marker. The level of Set gene expression did not correlate with sex, age, WBC, HGB, PLT, FAB typing, chromosomal karyotype and NPM1, C-Kit8/17, CEBPa, FLT3- ITD/TKD gene mutations in AML patients （ all P 〉 0. 05 ）. Conclusions The level of Set gene expression in bone marrow maybe play an important role in AML. The high expression of Set gene indicates poor prognosis in AML patients.