Schwarz A
Department of General Surgery, University of Ulm, Steinhoevelstrasse 9, 89075 Ulm, Germany.
Langenbecks Arch Surg. 2003 Mar;388(1):27-32. doi: 10.1007/s00423-003-0351-0. Epub 2003 Feb 19.
Germline mutations in the E-cadherin gene CDH1 have recently been described that seem to be responsible for the development of hereditary diffuse gastric cancer.
The world literature on familial gastric cancer is reviewed in terms of mutations of the E-cadherin gene CDH1.
There are reports of 18 families worldwide with hereditary diffuse gastric cancer due to germline mutations of the E-cadherin gene CDH1. Germline mutations of the E-cadherin gene CDH1 lead to hereditary diffuse gastric cancer with a penetrance of about 70%. An early onset with an average age of 38 years in men and women is typical for this autosomal dominant inherited disease. Until now preventive total gastrectomies with hereditary diffuse gastric cancer have been reported in five patients.
Preventive total gastrectomy should be the procedure of choice in patients with a germline mutation of the E-cadherin gene CDH1. Patients with a genetic risk for familial gastric cancer who reject preventive total gastrectomy must be followed-up intensively by endoscopy every 6-12 months.
最近发现E-钙黏蛋白基因CDH1的种系突变似乎是遗传性弥漫性胃癌发生的原因。
就E-钙黏蛋白基因CDH1的突变情况对有关家族性胃癌的世界文献进行综述。
全世界有报道称18个家族因E-钙黏蛋白基因CDH1的种系突变而患有遗传性弥漫性胃癌。E-钙黏蛋白基因CDH1的种系突变会导致遗传性弥漫性胃癌，其外显率约为70%。这种常染色体显性遗传病的典型特征是发病早，男性和女性的平均发病年龄为38岁。到目前为止，已有5例遗传性弥漫性胃癌患者接受了预防性全胃切除术的报道。
对于E-钙黏蛋白基因CDH1种系突变的患者，预防性全胃切除术应作为首选治疗方法。拒绝预防性全胃切除术的家族性胃癌遗传风险患者必须每6至12个月接受一次内镜的密切随访。
