胆道系统癌与血浆k-ras基因突变检测

Incidence and Clinical Significance of k-ras Mutation in the Plasma of Patients with Biliary Carcinoma

目的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 ,通过突变等位基因特异性扩增 (MASA)方法检测k -ras基因codon1 2突变。 结果 7例胆囊癌中 5例k -ras基因突变阳性 (71 .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水平均正常的胆囊癌、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。

Objective To study whether k-ras mutations can be detected in the plasma of patients with biliary cancers and ascertain the possibility of developing it as a non-invasive diagnostic marker of biliary cancers clinically. Methods DNA was extracted from plasma, k-ras mutations at codon 12 were determined by using the mutant allele specific amplification(MASA) method. Results The incidence of k-ras mutations in gallbladder carcinoma, intrahepatic cholangiocellular carcinoma and common duct cancer was 5/7 (71.4%), 2/6(33.3%),and 1/3(33.3%) respectively. k-ras mutations were not detected in the healthy controls. Conclusion Detection of k-ras mutations in plasma is useful for the diagnosis of biliary cancers, especially gallbladder carcinoma.