微卫星不稳定型胃癌中APC基因的突变分析
Mutation analysis of APC gene in gastric cancer with microsatellite instability.
作者信息
Fang Dian-Chun, Luo Yuan-Hui, Yang Shi-Ming, Li Xiao-An, Ling Xian-Long, Fang Li
机构信息
Department of Gastroenterology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China.
出版信息
World J Gastroenterol. 2002 Oct;8(5):787-91. doi: 10.3748/wjg.v8.i5.787.
AIM
To evaluate the role of APC mutation in gastric carcinogenesis and to correlate APC mutation with microsatellite instability (MSI) in gastric carcinomas.
METHODS
APC mutation was measured with multiplex PCR, denaturing gradient gel electrophoresis and DNA sequencing; and MSI was analyzed by PCR-based methods.
RESULTS
Sixty-eight cases of sporadic gastric carcinoma were studied for APC mutation at exon 15 and MSI. APC mutations were detected in 15(22.1 %) gastric cancers. Frequence of APC mutation (33.3 %) in intestinal type of gastric cancer was significantly higher than that in diffuse type (13.1 %, P<0.05). On the contrary, no association was observed between APC mutation and tumor size, differentiation, depth of invasion, metastasis or clinical stages. Using five microsatellite markers, MSI in at least one locus was detected in 17 of 68 (25 %) of the tumors analyzed. APC mutations were all detected in MSI-L (only one locus, n=9) or MSS(tumor lacking MSI or stable, n=51), but no mutation was found in MSI-H (> or =2 loci, n=8).
CONCLUSION
APC mutation is involved in carcinogenesis of intestinal type of gastric cancer and is independent of MSI phenotype but related to the LOH pathway in gastric cancer.
目的
评估APC突变在胃癌发生中的作用，并将胃癌中的APC突变与微卫星不稳定性（MSI）相关联。
方法
采用多重PCR、变性梯度凝胶电泳和DNA测序检测APC突变；采用基于PCR的方法分析MSI。
结果
对68例散发性胃癌进行了第15外显子APC突变及MSI研究。15例（22.1%）胃癌检测到APC突变。肠型胃癌的APC突变频率（33.3%）显著高于弥漫型（13.1%，P<0.05）。相反，未观察到APC突变与肿瘤大小、分化程度、浸润深度、转移或临床分期之间存在关联。使用5个微卫星标记，在68例分析的肿瘤中有17例（25%）在至少一个位点检测到MSI。APC突变均在MSI-L（仅一个位点，n=9）或MSS（肿瘤缺乏MSI或稳定，n=51）中检测到，但在MSI-H（≥2个位点，n=8）中未发现突变。
结论
APC突变参与肠型胃癌的发生，与MSI表型无关，但与胃癌的杂合性缺失途径相关。
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