目的通过检测胰液、粪便癌基因K-ras和抑癌基因p53的突变,探索早期诊断胰腺癌的手段.方法 1994年至2000年5月住院和门诊患者共201例,正常对照60例,通过聚合酶链反应-限制片段长度多态性(PCR-RFLP)方法检测胰液、粪便K-ras突变,PCR-SSCP方法检测p53突变.结果胰腺癌患者胰液K-ras突变率为87.8%(36/41),胰腺良性病变为23.5%(4/17).粪便K-ras扩增成功率为90.0%(235/261).胰腺癌患者粪便K-ras突变率为88.0%(66/75),胰腺良性病变为51.1%(24/47),正常人粪便K-ras突变率为19.6%(9/46).胰腺癌胰液细胞p53突变率47.4%(18/38),胰腺良性疾病为12.5%(2/16).胰腺癌粪便p53突变率为37.1%(23/62),慢性胰腺炎为19.1%(4/21).结论胰腺癌患者胰液K-ras突变的敏感性、特异性高,可以作为胰腺癌诊断的辅助手段.粪便K-ras结合p53检测可以提高敏感性,在胰腺癌筛选中有潜在的价值,联合血清CA19-9等肿瘤标记物检测有助于提高胰腺癌早期诊断率.%Objective To explore new methods for the early diagnosis of pancreatic cancer through detection of K-ras and p53 mutations in pancreatic juice and stool. Methods 201 patients in PUMC Hospital from 1994-2000 and 60 control individuals were enrolled in this study. K-ras point mutation was detected by PCR-RFLP while p53 mutation was detected by PCR-SSCP. Results K-ras mutation was found in pancreatic juice in 87.8% (36/41) of pancreatic cancer patients and 23.5% (4/17) of benign pancreatic disease patients. In 261 stool specimens, amplification found mutations successfully in 235 patients (90%). K-ras mutation was found in stool in 88% (66/75) of pancreatic cancer patients, 51.1% (24/47) of benign pancreatic disease patients and 19.6% (9/46) of normal individuals. p53 mutation was found in pancreatic juice in 47.4% (18/38) of pancreatic cancer patients and 12.5% (2/16) of benign pancreatic disease patients. p53 mutation was found in stool in 37.1% (23/62) and 19.1% (4/21) of chronic pancreatitis patients.Conclusion K-ras mutation in pancreatic juice has higher diagnosis sensitivity and specificity, and therefore may be used as a supplement in the diagnosis of pancreatic cancer. Detection of K-ras mutation combined with p53 mutation in stool can aid in the screening of pancreatic cancer.
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