粪便中p53与APC突变检测在大肠癌诊断中的意义

Detection of p53 and APC Mutations in Stool of Colorectal Cancer Patients

目的探讨在大肠癌患者粪便中检测p53、APC基因突变的可行性及其应用前景和意义。方法从36例大肠癌患者、10例大肠腺瘤患者以及30例正常对照者的粪便中分别提取DNA,应用PCR-SSCP法检测粪便中p53、APC基因突变情况。结果36例大肠癌患者粪便中p53及/或APC基因突变检出率为77.78%(19/36),二者突变率分别为52.78%(19/36)和36.11%(13/36);10例大肠腺瘤中p53基因突变检出率为0%,APC为20%;30例正常对照粪便中p53、APC基因突变检出率均为0%。p53的突变随大肠癌分化程度的降低而增高(P<0.05);APC基因突变与大肠癌组织学类型无关(P>0.05)。结论联合检测粪便中p53与APC突变在大肠癌诊断和筛查中有潜在的应用价值。

Objective To study the feasibility and prospect of DNA mutation detection in stool of colorectal cancer patients. Methods Stool samples were collected from 36 cases of colorectal cancer, 10 cases of eolorectal adenoma and 30 normal controls, Stool DNA was extracted and p53 and APC gene mutations were detected with PCR-SSCP. Results The positive rates of p53 and/or APC gene mutation in stool of colorectal cancer patients were 52.78 % （19/36） and 36. 11% （ 13/36 ）, respectively, and the total positive rate （ either p53 or APC positive） was 77.78 % （28/36）. None mutation was detected in 30 normal controls, p53 mutation was correlated with the cancer differentiation status. The positive rate in the poorly differentiated group was significantly higher than those in the well-differentiated group （ 65.22 % vs 30. 77 %, P 〈 0. 05 ）. There was no relation between APC gene mutation and cancer differentiation status. Conclusion Combining detection of p53 and APC in stool is a good way to diagnose eolorectal cancer. Stool DNA detection is a promising method in screening for colorectal cancer.