Objective To screen gene mutation in bladder cancer tissues and to explore the relation between TERT promoter mutations and recurrence of bladder cancer and tumor characteristics.Methods Fresh cancer tissues without formalin and 2cm non-tumor adjacent tissues (NATs) were taken within two hours after surgery and preserved at-80℃C.Genomic DNA was extracted.The TERT promoter region was amplified with polymerse chain reaction (PCR).The TERT promoter mutation sites were validated with Sanger sequencing.The association between the TERT promoter mutation and staging,grading and recurrence rate of bladder cancer was analyzed with Chi-square test.Results Amplification and mutation analysis were conducted in a total of 71 cases,and 45 patients were successfully followed up.Chi-square test proved that TERT promoter region mutation had obvious relevance with bladder cancer (P＜0.05),but not with tumor grade and staging (P＞0.05).The higher mutation rate in TERT promoter regions had significant statistical significance with the recurrence rate of electroscission in 0.5 ～1 year.Conclusion TERT promoter mutations occur frequently in the bladder urothelial carcinoma and the post-operative recurrence rate of mutant-type bladder tumor patients is significantly higher than that of non-mutant-type tumor patients.%目的 对膀胱癌组织进行基因突变筛查,探讨TERT启动子区突变与膀胱癌复发及肿瘤特征之间的关系.方法 取外科手术后2h内未添加甲醛的癌组织标本及癌旁2 cm以上的组织,在-80°冰箱保存,提取组织全基因组DNA,应用PCR技术对DNA的TERT启动子区域进行扩增,应用Sanger测序分析TERT启动子突变位点.结果数据卡方检验证明与膀胱癌肿瘤分期、分级及复发率是否相关.结果 对成功扩增的71例标本进行突变分析,45例患者成功随访,通过X2检验证明TERT启动子区域突变与膀胱癌的发生率有差异(P＜0.05),但与肿瘤分期、分级无差异性(P＞0.05),TERT启动子区域突变率越高与电切术后0.5～1年内复发率有显著统计学意义.结论 TERT启动子突变频繁发生在膀胱尿路上皮癌中,突变型膀胱肿瘤患者术后复发率明显高于非突变型肿瘤患者.
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