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目的:探讨肾母细胞瘤微卫星不稳定性(microsatellite instability,MSI)与临床病理的关系。方法:采用 PCR 扩增、变性聚丙烯酰胺凝胶电泳、银染等技术,选用分别定位于 X 及21号染色体的 AR 和 UT_(762)微卫星标记位点,对50例肾母细胞瘤进行 MSI 测定。结果:AR 位点MSI 阳性14例(28%),UT_(762)位点阳性10例(20%),同一病例两位点均阳性2例(4%),至少一个位点阳性22例(44%)。按 NWTS-Ⅲ临床病理分期,早期肿瘤(Ⅰ、Ⅱ期38例,16例阳性)阳性率42.1%与晚期肿瘤(Ⅲ、Ⅳ期12例,6例阳性)阳性率50.0%间无统计学差异(P>0.05);参照NWTS-Ⅱ病理分期,间变型(14例,阳性10例)阳性率71.4%,显著高于无间变型(36例中12例阳性)阳性率33.3%(P<0.05),并发现2例病理阴性者手术切缘组织 MSI 阳性。结论:MSI 可能是肾母细胞瘤发生的早期事件,并与其恶性程度有关。
Objective: To investigate the relationship between microsatellite instability (MSI) and clinicopathological features in nephroblastoma. Methods: PCR amplification, denaturing polyacrylamide gel electrophoresis, silver staining and other techniques were selected on chromosome X and chromosome 21 AR and UT 762 microsatellite markers, 50 cases of nephroblastoma MSI measurement. Results: MSI positive in AR was 14 (28%) in AR and 10 (20%) in UT 762, both positive in 2 cases (4%) in the same case and positive in at least 1 locus 44%). According to NWTS-Ⅲ clinicopathologic staging, there was no significant difference in the positive rate (42.1%) of early tumors (38 cases in stage Ⅰ and Ⅱ, 16 cases positive) and 50.0% in advanced tumors (12 cases in stage Ⅲ and Ⅳ, 6 cases were positive) (P> 0.05). According to NWTS-Ⅱ pathological staging, the positive rate of inter-variant (14 cases, positive 10 cases) was 71.4%, which was significantly higher than that of the all- , And found 2 cases pathologically negative surgical margins MSI-positive. Conclusion: MSI may be an early event in Wilms’ tumor and is related to its malignancy.