检测胆汁和胆管刷取物中K-ras基因突变诊断胆管癌

Detection of K-ras gene mutations in bile and bile duct brushings for diagnosis of cholangiocarcinamas

目的 探讨检测胆汁和胆管刷取物中K ras基因突变对胆管癌的诊断价值。方法 采用聚合酶链反应 单链构象多态性 (PCR SSCP)和DNA测序检测K ras基因突变 ,胆汁标本 2 3例 ,胆管刷取物 14例 ,胆管癌组织 10例。结果 经PCR SSCP银染分析 ,胆管癌胆汁、胆管刷取物和胆管癌组织中K ras基因突变率分别为 5 4.6% (6/ 11)、60 .0 % (6/ 10 )和 60 .0 % (6/ 10 ) ,胆管良性病变均无突变。经DNA测序分析发现 ,6例胆管癌中 2例为点突变 ,4例为插入突变。同一病例的胆汁、胆管刷取物和癌组织中的K ras基因突变及突变类型相一致。结论 检测胆汁和胆管刷取物中K ras基因突变对胆管癌的术前定性诊断有一定的实用价值。

Objective To explore the value of the detection of K-ras gene mutations in bile and bile duct brushings for diagnosis of cholangiocarcinamas.Methods PCR-SSCP and DNA sequencing were performed to detect K-ras gene mutations in bile (n=23),bile duct brushings (n=14) and bile duct cancer tissues (n=10).Results K-ras gene mutations in bile,bile duct brushings and bile duct cancer tissues were found in 54.6%,60.0% and 60.0% of patients with cholangiocarcinamas respectively,but no mutation was observed in benign bile duct disease.Using DNA sequencing analysis,point mutations were detected in 2 patients and insertion mutations in 4 patients with cholangiocarcinamas.K-ras gene mutations and its types discovered from bile,bile duct brushings and bile duct cancer tissues of the same patient were identical.Conclusion The detection of K-ras gene mutations in bile and bile duct brushings may be useful for preoperative diagnosis of cholangiocarcinamas.