目的检测多发性骨髓瘤(MM)患者骨髓瘤细胞中PTEN及FAK mRNA及其蛋白水平变化,分析两者的关系及与MM临床分期、髓外浸润的关系,以探讨二者在MM发病中的可能作用。方法收集55例MM患者与20个缺铁性贫血患者骨髓单个核细胞,应用CD138抗体将MM细胞进行纯化。实时荧光定量PCR(FQ-PCR)法检测PTEN、FAK mRNA表达,Western印迹法测定其蛋白表达水平。结果①55例MM患者PTEN和FAK mRNA表达水平分别为0.723±0.059和1.072±0.626,对照组分别为0.984±0.359和0.433±0.240,二组相比有显著差异(P<0.05,P<0.01)。Spearman双变量相关分析结果显示,MM患者中PTEN mRNA与FAK mRNA表达水平呈显著性负相关(r=-0.560,P<0.01)。②按Durie-Salmon分期将MM患者分为两组。Ⅰ+Ⅱ期MM患者组15例,PTEN和FAK mRNA表达水平分别为0.909±0.429和0.726±0.317。Ⅲ期MM患者组40例,PTEN和FAK mRNA表达水平分别为0.653±0.347和1.224±0.667,二组比较有显著差异(P<0.05,P<0.01)。③按是否伴有髓外浸润将所有MM患者分为两组。伴髓外浸润组12例,PTEN mRNA表达水平为0.656±0.296,伴髓外浸润患者共43例,PTEN mRNA表达水平为(0.742±0.407),二组相比差异不显著(P>0.05)。伴有髓外浸润组FAK mRNA表达水平为1.791±0.618,无髓外浸润组为0.878±0.468,二组相比差异显著(P<0.01)。④选择12例Ⅲ期MM患者和6例对照患者行Western印迹检测,其中无髓外浸润MM患者6例,伴髓外浸润患者6例。12例MM患者PTEN蛋白平均表达水平为0.081±0.087,与对照组(0.332±0.119)相比差异显著(P<0.01);T-FAK蛋白平均表达水平为0.257±0.119,与对照组(0.106±0.090)比较差异显著(0.010.05)。结论 PTEN和FAK mRNA以及蛋白表达水平与MM疾病的发生、进展密切相关。PTEN表达减少是引起p-FAK表达增高的关键因素之一。 Objective To detect the changes of PTEN and FAK mRNA and protein levels in myeloma cells from multiple myeloma (MM) patients. To investigate the relationship between them and the clinical stage and extramedullary infiltration of MM, so as to explore their roles in the pathogenesis of MM May work. Methods Bone marrow mononuclear cells from 55 patients with MM and 20 patients with iron deficiency anemia were collected. MM cells were purified using CD138 antibody. The expression of PTEN and FAK mRNA was detected by real-time fluorescence quantitative PCR (FQ-PCR), and the protein expression level was determined by Western blotting. Results ① The expressions of PTEN and FAK mRNA in 55 MM patients were 0.723 ± 0.059 and 1.072 ± 0.626, respectively, and those in the control group were 0.984 ± 0.359 and 0.433 ± 0.240 respectively (P <0.05, P <0.01). Spearman’s bivariate correlation analysis showed that there was a significant negative correlation between PTEN mRNA and FAK mRNA expression in MM patients (r = -0.560, P <0.01). ② According to Durie-Salmon stage MM patients were divided into two groups. Fifteen patients with stage Ⅰ + Ⅱ MM had PTEN and FAK mRNA expression levels of 0.909 ± 0.429 and 0.726 ± 0.317, respectively. Forty patients with stage Ⅲ MM had PTEN and FAK mRNA expression levels of 0.653 ± 0.347 and 1.224 ± 0.667, respectively (P <0.05, P <0.01). ③ according to whether there is extramedullary infiltration of all MM patients are divided into two groups. PTEN mRNA expression level was 0.656 ± 0.296 in 12 cases with extramedullary infiltration. There were 43 cases with extramedullary infiltration, the expression level of PTEN mRNA was (0.742 ± 0.407), there was no significant difference between the two groups (P> 0.05). The expression of FAK mRNA in extramedullary infiltration group was 1.791 ± 0.618 and in non-extramedullary infiltration group was 0.878 ± 0.468, there was significant difference between the two groups (P <0.01). ④ Twelve cases of stage III MM and 6 cases of control were selected and tested by Western blot. There were 6 cases without MM and 6 cases with extramedullary infiltration. The average expression level of PTEN protein in 12 MM patients was 0.081 ± 0.087, which was significantly different from that in control group (0.332 ± 0.119) (P <0.01). The average expression level of T-FAK protein was 0.257 ± 0.119, which was significantly higher than that in control group (0.106 ± 0.090) (P <0.05). No p-FAK protein was detected in the 6 control bone marrow samples, all of 11 patients had different degrees of expression, with an average level of 0.082 ± 0.040. The positive rate of the two groups was significantly different (χ2 = 14.14, P <0.01). The average expression of PTEN protein in 6 MM patients without MM and 6 MM patients with extramedullary infiltration were 0.093 ± 0.091 and 0.069 ± 0.089, respectively, and the average expression of T-FAK protein was 0.257 ± 0.126 and 0.257 ± 0.123. The average expression of p-FAK protein was 0.053 ± 0.142 and 0.097 ± 0.038, respectively. The average expression of p-FAK protein was significantly different between the two groups (P <0.05). PTEN and T-FAK in both groups There was no significant difference (P> 0.05). Conclusion PTEN and FAK mRNA and protein expression level are closely related to the occurrence and progression of MM disease. Decreased PTEN expression is one of the key factors that cause the increase of p-FAK expression.