Saetta A A, Goudopoulou A, Korkolopoulou P, Voutsinas G, Thomas-Tsagli E, Michalopoulos N V, Patsouris E
Department of Pathology, Medical School, National and Kapodistrian University of Athens, Athens 11527, Greece.
Eur J Surg Oncol. 2004 Sep;30(7):796-803. doi: 10.1016/j.ejso.2004.04.015.
To determine the presence of microsatellite instability (MSI) and to assess the expression of the human mismatch repair (MMR) gene products hMLH1 and hMSH2 in primary transitional cell carcinomas (TCCs) of the urinary bladder in relation to clinico-pathological parameters.
Seventy-two cases of primary TCC were screened for the presence of alterations in MSI markers by molecular techniques and evaluated immunohistochemically for the expression of hMLH1 and hMSH2 proteins. Clinical data were available in 70 cases. The percentage of MSI rose to 16.6%.
Reduced (<20%) hMLH1 expression was closely related to the presence of MSI (p=0.0004). Neither MMR proteins nor MSI was associated with grade, stage, papillary status. Clinical outcome analysed as a function of MSI did not show significant differences in terms of both disease-free and overall survival. Reduced hMLH1 expression was a significant predictor of shorter disease-free survival in univariate and multivariate analysis.
The presence of MSI is not related to classical clinico-pathological parameters in TCCs, nor does it appear to be of prognostic significance. hMLH1 was an important indicator for recurrence.
确定微卫星不稳定性（MSI）的存在，并评估人错配修复（MMR）基因产物hMLH1和hMSH2在原发性膀胱移行细胞癌（TCC）中的表达与临床病理参数的关系。
采用分子技术对72例原发性TCC进行MSI标志物改变的筛查，并通过免疫组织化学方法评估hMLH1和hMSH2蛋白的表达。70例患者有临床资料。MSI的比例升至16.6%。
hMLH1表达降低（<20%）与MSI的存在密切相关（p=0.0004）。MMR蛋白和MSI均与分级、分期、乳头状状态无关。根据MSI分析的临床结果在无病生存期和总生存期方面均未显示出显著差异。在单因素和多因素分析中，hMLH1表达降低是无病生存期较短的重要预测因素。
MSI的存在与TCC的经典临床病理参数无关，似乎也不具有预后意义。hMLH1是复发的重要指标。
