APC蛋白表达在衰减型家族性腺瘤性息肉病诊断中意义的初步探讨

The Significance of APC Protein Expression in the Dagnosis of AFAP

目的初步探讨APC蛋白表达在衰减型家族性腺瘤性息肉病诊断中的意义。方法疑似衰减型家族性腺瘤性息肉病67例,散发性大肠腺癌30例,正常大肠粘膜30例作为正常对照。采用免疫组化法检测各组中APC蛋白表达水平。结果疑似衰减型家族性腺瘤性息肉病组APC蛋白阴性表达率26.87%(18/67),其中10枚≤结肠腺瘤数目<100枚者11例,2枚≤结肠腺瘤数目<10枚并伴发胃底腺息肉或十二指肠腺瘤者7例;散发性大肠腺癌组中APC蛋白阴性表达率为43.33%(13/30);正常大肠粘膜组未发现一例APC蛋白阴性表达。结论伴发胃底腺息肉或十二指肠腺瘤的2枚≤结肠腺瘤数目<100枚且APC蛋白表达阴性者可以诊断为AFAP。不伴胃底腺息肉或十二指肠腺瘤的10枚≤结肠腺瘤数目<100枚者,APC蛋白表达阴性只能作为AFAP的辅助诊断,应调查其家族史,排除APC基因体细胞突变情况。APC蛋白阳性表达的患者不能除外AFAP的可能。

Objective： To explore the significance of APC protein expression in the diagnosis of attenuated familial adenomatous polyposis （AFAP）. Methods： Select suspectedAFAP 67 cases, sporadic colorectal adenocarcinoma 30 cases, and 30 cases with normal bowel mucosa as a normal control. The expression of APC protein was detected by immunohistochemical method in each group. Results： The rate of APC protein-negative expression in suspected AFAP group is 26.87% （18/67）, 10≤adenoma numbers〈100 have 11 cases, and 2≤adenoma numbers〈10 and with fundic gland polyps or duodenal adenomas have 7 cases. 43.33% （13/30） of sporadic colorectal adenocarcinoma group is APC protein-negative, and the normal mucosa group has no APC protein-negative expression. Conclusions： The patients with APC protein-negative expression of 2 ≤ colorectal adenoma numbers〈100 and with fundic gland polyps or duodenal adenomas can be diagnosed as AFAP. The patients with APC protein-negative expression of 10≤ colorectal adenoma numbers〈100 but without fundic gland polyps or duodenal adenomas only can be help for diagnosed as AFAP, and familial history should be investigated and APC gene somatic mutation should be excluded. The patients with APC protein-positive expression of colorectal multiple adenomatous polyps can not be excluded the possibility of AFAP.