【摘要】 目的:了解膀胱移行细胞癌(TCC)组织中PTEN基因第5外显子(Exon5)和第8外显子(Exon8)的突变情况及其与膀胱癌生物学行为的关系。方法:选择突变率较高的PTEN基因Exon5和Exon8,应用银染PCR-SSCP并结合基因测序方法分析46例TCC患者的PTEN突变情况。结果:PTEN的Exon5扩增产物为379bp,所有肿瘤组织均表现为3条迁移带(2条单链和1条双链),没有发现额外迁移带。Exon8扩增产物为550bp,经酶切为两个片段。所有肿瘤组织均表现为6条迁移带(4条单链和2条双链),没有发现额外迁移带。结论:TCC患者的肿瘤组织中PTEN基因Exon5和Exon8的突变不是一个常见事件,PTEN是否还存在其他灭活方式还需要进一步研究。更多还原

【Abstract】 Objective: To evaluate the mutation of PTEN exon 5 and exon 8 (high mutation frequence) in transitional cell carcinoma (TCC) of the bladder and the relationship between PTEN gene mutation and the biological behavior of TCC. Methods: PTEN exon 5 and exon 8 were selected to examine 46 TCC patients with PCR-SSCP and gene sequencing. Results:PTEN exon 5 and exon 8 PCR products were 379 bp and 550 bp respectively, and exon 8 PCR products were cut into two small fragments. Three bands in exon 5 and six bands in exon 8 were found respectively in all bladder cancers and normal bladder mucosas without extra bands. The SSCP analysis did not show any mutations or deletions in any of the 46 bladder cancer specimens. Conclusion: PTEN mutation was uncommon in bladder cancers, other inactivation forms of PTEN need to be explored.更多还原