高危骨髓增生异常综合征PTEN基因异常表达的临床意义

目的观察高危骨髓增生异常综合征（MDS）患者骨髓细胞中PTEN表达情况,探讨其在高危MDS患者临床病理意义以及与疾病转归的关系（相关性）,初步评价其对高危MDS的临床意义和判断预后的指导作用。方法采用免疫组化方法（S-P法）检测高危MDS 25例、良性血液病24例（对照组）患者的骨髓（病理石蜡切片）细胞中PTEN表达情况,并对25例高危MDS的治疗反应及疾病转归进行随访。结果高危MDS的PTEN阳性表达率为56.00%;对照组为90%;两者间差异有非常显著性（P〈0.01）。以PTEN表达水平标本积分判定≥3分为标准,设高表达组和低表达组：高表达组8例,低表达组17例。高表达组治疗反应率（有效率）62.50%（5/8例）;低表达组治疗反应率（有效率）47.06%（8/17例）,两者之间差异有显著性（P〈0.05）。25例高危MDS均行染色体核型分析,其中异常9例;正常16例;PTEN的表达水平与染色体核型异常无相关性。转急性白血病（MDS-AL）高表达组3/8例（37.50%）;低表达组11/17例（64.71%）。结论高危MDS存在PTEN基因表达的异常,PTEN表达与治疗反应有相关性,PTEN对于高危MDS的预后判断有一定的意义。

Abnormal expression of PTEN in high-risk myelodysplastic syndromes and its clinical significance

Objective To detect the PTEN expression in bone marrow cells of patients with high-risk myelodysplastic syndromes（MDS）,as well as to explore its clinical significance in high-risk MDS and relativity with disease development,and make a preliminary evaluation of its guide to predict prognosis.Methods The cases included 25 patients with high danger MDS,with a group of 24 patients with non-hematologic malignancies and normal bone marrow cells（pathological paraffin section）as control.The expression of PTEN was detected by sSP immunocytochemical staining（S-P method）.We also did follow-up study on treatment response and disease prognosis of the 25 high-risk MDS cases.Results There were significant difference（P0.01） between positive expression rate of PTEN in high-risk MDS（56.00%） and control（90.00%）.High-expression group and low-expression group were set up based on the integration of sample≥3 to determine PTEN expression levels：the high-expression group 8 cases and low-expression group 17 cases.There were differences between the treatment response rate of high-expression group（5/8 cases,62.50%）and that of low-expression group（8/17 cases,47.06%）,but it was not obvious（0.01P0.05）.In chromosome karyotype analysis of 25 high-risk MDS cases,there were 9 abnormal cases and 16 normal cases,and PTEN expression level showed no relativity with abnormal chromosome karyotype.In high-expression group,3 in 8 cases changed into acute leukemia（37.50%）,and in low-expression the proportion was 11/17（64.71%）.Conclusion Abnormal expression of PTEN gene exists in high-risk MDS patients,and it has some relativity with treatment response.Therefore,PTEN has a certain significance for prognosis of high-risk MDS.