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目的 :为了探讨在散发性结直肠癌的发生过程中转化生长因子βⅡ型受体基因 (RII)的突变与微卫星不稳定性 (RER)间的关系。方法 :我们应用PCR -SSCP -银染方法检测了 5 0例散发性结直肠癌中的RER状态及RII基因突变情况 (近端结肠 19例 ,远端 31例 )。结果 :RER +的共有 13例 (8例在近端 ,5例在远端 ) ,RII基因突变的共有 5例。所有 5例RII基因突变者均同时伴有RER +,而所有RER -病例均无RII基因突变。其中 4例RII基因突变者位于回盲部肿瘤中。结论 :这些数据提示在散发性结直肠癌中 ,尤其是在回盲部肿瘤中 ,TGF - βRII基因的A10 重复序列是微卫星不稳定性的靶点 ,在肿瘤形成过程中可能起重要作用
AIM: To investigate the relationship between the mutation of transforming growth factor β Ⅱ receptor gene (RII) and microsatellite instability (RER) in the development of sporadic colorectal cancer. Methods: We detected the RER status and RII gene mutation in 50 cases of sporadic colorectal cancer by PCR-SSCP-silver staining (19 cases of proximal colon and 31 cases of distal end). Results: A total of 13 cases of RER + (8 cases in the proximal and 5 cases in the distal), RII gene mutations in a total of 5 cases. All five RII mutations were accompanied by RER +, while none of the RER - cases had RII mutations. Four of the RII gene mutations were located in the ileocecal tumor. CONCLUSIONS: These data suggest that the A10 repeat of the TGF - βRII gene is a microsatellite instability target in sporadic colorectal cancer, especially in the ileocecal tumor and may play an important role in tumorigenesis