Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker K F, Mueller J, Siewert J R, Höfler H
Institute of Pathology, Department of Surgery, Technische Universität München, Munich, Germany.
Am J Pathol. 1999 Aug;155(2):337-42. doi: 10.1016/S0002-9440(10)65129-2.
E-Cadherin alterations have been reported frequently in sporadic diffuse type gastric and lobular breast carcinomas. Germline mutations of this gene have been identified recently in several gastric cancer families. We analyzed seven patients with a family history of the disease who had diffuse type gastric cancer diagnosed before the age of 45 for germline mutations in CDH1, the gene encoding the E-cadherin protein. We identified a frameshift mutation in exon 3 in one patient with a strong family history of gastric cancer. The same germline mutation was found in the patient's mother, who had metachronous development of lobular breast and diffuse type gastric carcinomas. Immunohistochemistry for E-cadherin protein expression revealed an abnormal staining pattern in both of these tumors, suggesting complete inactivation of the cell adhesion molecule. Thus, our finding suggests that besides diffuse type gastric cancer, lobular breast carcinomas may be associated with germline CDH1 mutations.
E-钙黏蛋白改变在散发性弥漫型胃癌和小叶型乳腺癌中经常被报道。该基因的种系突变最近在几个胃癌家族中被发现。我们分析了7名有该疾病家族史且在45岁之前被诊断为弥漫型胃癌的患者，以检测编码E-钙黏蛋白的CDH1基因中的种系突变。我们在一名有强烈胃癌家族史的患者中发现外显子3存在移码突变。在该患者的母亲身上也发现了相同的种系突变，她患有小叶型乳腺癌和弥漫型胃癌的异时性发展。E-钙黏蛋白蛋白表达的免疫组织化学显示这两种肿瘤均有异常染色模式，提示细胞黏附分子完全失活。因此，我们的发现表明，除了弥漫型胃癌外，小叶型乳腺癌可能与种系CDH1突变有关。
