Lee J G, Leung J W, Cotton P B, Layfield L J, Mannon P J
Division of Gastroenterology and Pathology, Duke University Medical Center, Durham, North Carolina, USA.
Gastrointest Endosc. 1995 Oct;42(4):317-20. doi: 10.1016/s0016-5107(95)70129-x.
Because K-ras oncogene mutations are present in more than 90% of pancreaticobiliary tumors, we tested prospectively whether K-ras mutational analysis of bile samples obtained during ERCP was superior to conventional bile cytology for diagnosis of malignancy.
Bile samples from 20 patients undergoing ERCP for evaluation of jaundice were examined by both cytologic study and the polymerase chain reaction for the presence of K-ras oncogene mutations.
Polymerase chain reaction products were amplified from the bile of 8 of 12 patients with malignancy and 3 of 8 with benign disease; K-ras oncogene mutations were present in 4 of 8 polymerase chain reaction products from malignant samples but absent in all 3 from benign samples. No cytologic results were positive for malignancy.
Bile obtained during ERCP can yield positive results in K-ras mutational analysis, even when results of conventional bile cytology are negative. In this study, K-ras mutational analysis had a sensitivity of 33% (4 of 12), a specificity of 100%, and a positive predictive value of 100% for diagnosis of malignancy.
由于超过90%的胰胆管肿瘤存在K-ras癌基因突变，我们前瞻性地测试了在内镜逆行胰胆管造影（ERCP）期间获取的胆汁样本的K-ras突变分析在恶性肿瘤诊断方面是否优于传统的胆汁细胞学检查。
对20例因黄疸接受ERCP检查的患者的胆汁样本进行细胞学研究和聚合酶链反应，以检测K-ras癌基因突变的存在情况。
12例恶性疾病患者中有8例的胆汁样本通过聚合酶链反应扩增出产物，8例良性疾病患者中有3例的胆汁样本扩增出产物；恶性样本的8个聚合酶链反应产物中有4个存在K-ras癌基因突变，而良性样本的3个产物中均未检测到。细胞学检查结果均未显示恶性阳性。
即使传统胆汁细胞学检查结果为阴性，ERCP期间获取的胆汁在K-ras突变分析中仍可得出阳性结果。在本研究中，K-ras突变分析对恶性肿瘤诊断的敏感性为33%（12例中的4例），特异性为100%，阳性预测值为100%。
