余成仿 王吉甫 510630 广州，暨南大学医学院附属医院外科(余成仿)；中山医科大学附属第一医院胃肠外科(王吉甫) 中华肿瘤杂志 1998 0 0 5


    关键词：肠，大/病理学 肠肿瘤/遗传学 突变 基因，APC 期刊 zhzlzz 0 基础研究 fur -->


    

【摘要】 目的 检测APC基因在国人散发性大肠肿瘤中的突变情况,并探讨APC基因突变与大肠肿瘤生物学行为的关系。方法 采用PCR-SSCP、DNA测序对27例(33份标本)大肠息肉，36例大肠癌和相应正常粘膜及3例家族性腺瘤性息肉瘤(FAP)标本中APC基因“突变密集区”(mutation cluster region MCR)的突变进行了研究。结果 大肠息肉和癌组织中，APC基因MCR突变率分别为30.3%(10/33)和35.9%(14/39)，两者差异无显著性，而正常大肠粘膜、炎性息肉和增生性息肉均无突变。3例FAP发现有2例突变，其中1例从正常粘膜到腺瘤、到癌变组织均有突变，另1例则在>1.0 cm的腺瘤和肝转移癌组织有突变，测序结果证实该例在1425号密码子存在相同点突变。APC突变与肿瘤的临床病理特征无明显的相关性。结论 APC不仅在FAP中存在突变，而且在散发性大肠肿瘤中亦存在突变；它的突变至少参与了部分大肠癌的发生发展过程，而且是这一过程中较早发生的事件。

    Mutation of APC gene in sporadic colorectal tumors Yu Chengfang, Wang Jifu. Department of Surgery,Affiliated Hospital,Medical College of Jinan University 510630

    【Abstract】 Objective To investigate mutation of APC gene in sporadic colorectal tumors. MethodsThirty-six samples of colorectal cancer and twenty-eight samples of colorectal polyps resected by operation and endoscopy were collected. As control, normal mucosal tissues in patients with cancer were taken from site 10 cm away from cancer. Three familial adenomatous polyposis (FAP) patients were also included in this study. The mutation cluster region (MCR) within exon 15 of APC gene was amplified by PCR and the PCR products were subject to SSCP analysis. Three mutant DNA fragments screened by PCR-SSCP were sequenced. Results No mutation in MCR of APC gene was found in normal mucosa ,inflammatory polyp and hyperplastic polyp. Mutation in MCR of APC gene was found in 7 of 28 cases with sporadic colorectal polyps and in 11 of 36 cases with colorectal carcinomas. The difference in mutation frequency between adenomatous group (including FAP,31.0%) and carcinomatous group(including FAP,35.9%) was not statistically significant (P>0.05).Mutation of APC gene was detected in two of three FAP patients. The same point mutation of codon 1 425 was found in both adenoma tissue and its hepatic metastasis in one FAP patient by DNA sequencing. Conclusion Mutation of APC gene occurs not only in FAP, but also in sporadic colorectal tumors.It takes part in the development of most, if not all,sporadic colorectal carcinomas.

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