大肠癌患者粪便中C-erbB-2扩增和p53突变的检测及临床意义

目的　建立大肠癌患者粪便 Ｃｅｒｂ Ｂ２ 扩增及ｐ５３ 突变的检测方法，探讨大肠癌的基因诊断的临床意义。 方法　以差异聚合酶链反应（ Ｐ Ｃ Ｒ） 、 Ｐ Ｃ Ｒ单链构象多态性分析（ Ｓ Ｓ Ｃ Ｐ） 银染技术，分别检测大肠癌患者粪便 Ｃｅｒｂ Ｂ２ 扩增及ｐ５３ 突变。 结果　１４ 例中查出 Ｃｅｒｂ Ｂ２ 扩增７ 例（５０ ％ ） ，ｐ５３ 突变８ 例（５７ ％ ） ，二基因联合检出１１ 例（７９ ％ ） 。２ 例粪便潜血试验（ Ｆ Ｏ Ｂ Ｔ） 阴性中，１ 例 Ｃｅｒｂ Ｂ２扩增及ｐ５３ 突变均阳性，另１ 例ｐ５３ 突变阳性。 结论　联合多基因检测能对大肠癌的基因诊断提供更多的帮助，粪便 Ｄ Ｎ Ａ 标本的 Ｃｅｒｂ Ｂ２ 扩增及ｐ５３ 突变分析可为筛查尚无出血或 Ｆ Ｏ Ｂ Ｔ 假阴性的大肠癌及大肠癌高危个体的一种新的有效手段。

The detection and their clinical significance of C erbB 2 amplification and p53 mutation in the stools of patients with colorectal carcinomas

Objective To establish the detection methods of c erbB 2 amplification and p53 mutation in the stools of patients with colorectal carcinomas and investigate its clinical significance. Methods C erbB 2 amplification and p53 mutation were detected by differential PCR and PCR SSCP silver stain respectively. Results Positive C erbB 2 and or p53 mutation were found in 14 out of 26 cases of colorectal carcinoma.The positive rates of C erbB 2 amplification,p53 mutation and the concomitant abnormality of the two genes were 50% (7/14),57% (8/14) and 79% (11/14), respectively. In the two cases of negative FOBT, one case had both C erbB 2 amplification and p53 mutation,the other showed p53 mutation only. Conclusions The detection of C erbB 2 amplification and p53 mutation in the stool DNA samples is a new and effective method for screening colorectal carcinoma in cases with no GI bleeding or false negative FOBT and individuals who are at high risk for colorectal carcinoma.