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探讨胆道系统癌患者外周血中是否存在ｋ－ｒａｓ基因突变及其诊断价值。方法 提取血浆DNA，通过ｍｕｔａｎｔ ａｌｌｅｌｅ ｓｐｅｃｉｆｉｃ ａｍｐｌｉｆｉｃａｔｉｏｎ（ＭＡＳＡ）方法检测ｋ－ｒａｓ基因codon １２突变。结果 7例胆囊癌中5例ｋ－ｒａｓ基因突变阳性（１７．４％），６例肝内胆管细胞癌和3例总胆管癌中分别有2例（３３．３％）及1例（３３．３％)ｋ－ｒａｓ基因突变检测阳性。ｋ－ｒａｓ基因突变检测阳性而血清CA１９－９、CEA水平均正常者胆囊癌、肝内胆管细胞癌与总胆管癌各1例。结论 胆道系统癌外周血中存在肿瘤DNA，特别是胆囊癌检测血浆ｋ－ｒａｓ基因突变具有较高的诊断意义。
To investigate the existence of k-ras gene mutation in peripheral blood of patients with biliary system cancer and its diagnostic value. Methods Plasma DNA was extracted and the codon 12 mutation of k-ras gene was detected by mutant allele specific amplification (MASA). Results Of the seven gallbladder carcinomas, 5 were positive for k-ras gene mutation (17.4%), 6 (33.3%) were intrahepatic cholangiocarcinoma and 3 (33.3% .3%) k-ras gene mutation test positive. k-ras gene mutation detection positive and serum CA19-9, CEA levels were normal in gallbladder carcinoma, intrahepatic cholangiocarcinoma and cholangiocarcinoma in 1 case. Conclusion The presence of tumor DNA in peripheral blood of biliary system cancer, especially for the detection of plasma k-ras gene mutation in gallbladder cancer, has a high diagnostic value.