Humar Bostjan, Blair Vanessa, Charlton Amanda, More Helen, Martin Iain, Guilford Parry
Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Cancer Res. 2009 Mar 1;69(5):2050-6. doi: 10.1158/0008-5472.CAN-08-2457. Epub 2009 Feb 17.
The importance of loss of the cell-cell adhesion molecule E-cadherin (encoded by CDH1) to tumor progression is well established. However, CDH1 germ-line mutations predispose to the cancer susceptibility syndrome hereditary diffuse gastric cancer (HDGC), suggesting a role for E-cadherin in tumor initiation. The earliest indications of cancer in the stomachs of CDH1 mutation carriers are microscopic foci of intramucosal signet-ring cell carcinoma (SRCC; designated "eHDGC"). Here, we used N-methyl-N-nitrosourea (MNU) to promote gastric carcinogenesis in wild-type (wt) and cdh1(+/-) mice. MNU induced a variety of gastric tumors; however, intramucosal SRCC developed with an 11 times higher incidence in cdh1(+/-) mice compared with wt mice. The murine SRCC resembled the human eHDGCs in that they were hypoproliferative, lacked nuclear beta-catenin accumulation, and had reduced membrane localization of E-cadherin and its interacting junctional proteins. The down-regulation of E-cadherin in the murine SRCCs confirmed the importance of the second CDH1 hit to the initiation of diffuse gastric cancer. CDH1 promoter hypermethylation has been proposed to be a major second hit in advanced HDGC; however, its contribution to eHDGC was unknown. We thus examined a series of human eHDGC and detected CDH1 promoter methylation in 50% of foci. Promoter methylation was accompanied by reduced wt CDH1 mRNA levels in the foci and had a monoclonal pattern, consistent with an epigenetic initiation of disease. Together, these findings provide compelling evidence for a deficiency in cell-to-cell adhesion being sufficient to initiate diffuse gastric cancer in the absence of hyperproliferation and beta-catenin activation.
细胞间粘附分子E-钙粘蛋白(由CDH1编码)的缺失对肿瘤进展的重要性已得到充分证实。然而,CDH1种系突变易患癌症易感性综合征遗传性弥漫性胃癌(HDGC),这表明E-钙粘蛋白在肿瘤起始中发挥作用。CDH1突变携带者胃部最早的癌症迹象是黏膜内印戒细胞癌(SRCC;称为“eHDGC”)的微小病灶。在此,我们使用N-甲基-N-亚硝基脲(MNU)促进野生型(wt)和cdh1(+/-)小鼠的胃癌发生。MNU诱导了多种胃部肿瘤;然而,与wt小鼠相比,cdh1(+/-)小鼠中黏膜内SRCC的发生率高出11倍。小鼠SRCC与人类eHDGC相似,它们增殖缓慢,缺乏核β-连环蛋白积累,并且E-钙粘蛋白及其相互作用的连接蛋白的膜定位减少。小鼠SRCC中E-钙粘蛋白的下调证实了第二次CDH1基因打击对弥漫性胃癌起始的重要性。CDH1启动子高甲基化被认为是晚期HDGC中的主要第二次打击;然而,其对eHDGC的贡献尚不清楚。因此,我们检查了一系列人类eHDGC,并在50%的病灶中检测到CDH1启动子甲基化。启动子甲基化伴随着病灶中野生型CDH1 mRNA水平的降低,并且具有单克隆模式,这与疾病的表观遗传起始一致。总之,这些发现提供了令人信服的证据,表明细胞间粘附缺陷足以在没有过度增殖和β-连环蛋白激活的情况下引发弥漫性胃癌。