软组织平滑肌肉瘤3p微卫星不稳定性及其临床意义

目的　通过检测软组织平滑肌肉瘤染色体 3p上错配修复基因hMLH1附近位点的微卫星不稳定性 (microsatelliteinsta bility ,MSI) ,了解其发生情况及临床意义。方法　运用PCR SSLP法对 2 2例软组织平滑肌肉瘤 3p上 5个标记的微卫星不稳定性进行检测 ,并结合病例的临床资料 ,用Cox比例风险模型对平滑肌肉瘤患者的预后影响因素进行评估。结果　 2 2例平滑肌肉瘤中 17例检出MSI(77 3% ) ,MSI带型以肿瘤与其相应正常组织相比 ,出现条带的增加或减少为主。女性患者MSI阳性率显著高于男性患者 (P <0 0 5 ) ;单因素分析显示MSI阳性是与生存率相关的有意义的预后因子 (P <0 0 5 ) ,多因素分析则显示MSI阳性及患者年龄大于 5 0岁与临床预后良好明显相关 (P <0 0 5 )。结论　平滑肌肉瘤染色体 3p微卫星不稳定性发生率高 ,提示hMLH1可能在该肿瘤中存在异常 ,检测MSI有助于平滑肌肉瘤的预后判断

Microsatellite instabilities on chromosome 3p in leiomyosarcoma of soft tissue and its clinical significance

Purpose To investigate the microsatellite instabilities (MSI) status on chromosome 3p loci which were adjacent to human mismatch repair gene hMLH1 in leiomyosarcomas of soft tissue and to reveal its clinical significance. Methods Microsatellite instabilities on chromosome 3p were detected in 22 cases of soft tissue leiomyosarcomas using five markers by PCR-SSLP method. Cox proportional hazard regression model was used for statistical evaluation of prognostic factors. Results MSI was observed in 17 tumor samples of 22 cases (77.3%), which showed predominantly increased or decreased bands compared with their normal tissues. MSI positive rates in female were significantly higher than in male(P<0.05). Univariate analysis identified that MSI positivity was a significant prognostic factor for overall survival (P<0.05). Multivariate analysis showed that positive MSI and age of the patient over 50 years old were correlated significantly with better clinical outcome. Conclusions Microsatellite instabilities on chromosome 3p are frequent in leiomyosarcomas, which suggest that hMLH1 gene might be abnormal in leiomyosarcomas. MSI detection might be useful in predicting prognosis of leiomyosarcomas.