Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance
Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance
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DOI：
10.1007/s10689-012-9521-y
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发表时间：
2012-09-01
期刊：
影响因子：
2.2
通讯作者：
Cats, Anemieke
中科院分区：
文献类型：
--
作者：
Kluijt, Irma;Sijmons, Rolf H.;Cats, Anemieke
遗传性弥漫性胃癌（HDGC）是一种相对罕见的疾病，唯一已知的病因是CDH1基因突变。携带CDH1种系突变的人一生中患弥漫性胃癌的风险为80%。由于定期胃监测在早期发现胃癌的价值有限，建议对这组患者进行预防性胃切除术。对其他类型的家族性胃癌知之甚少。荷兰遗传性胃癌工作组为胃癌高危家庭和个人制定了医疗管理的各个方面的指导方针，包括转诊、分类、诊断和定期胃监测的标准。这些指南并不局限于HDGC，因此部分补充了国际胃癌连锁联盟（IGCLC 2010）关于遗传性弥漫性胃癌的指南。为优化护理，提高对遗传性胃癌的认识，对这些患者进行集中医疗护理是很重要的。通过增加研究队列的规模，有必要进行国内和国际合作，以提高研究质量。
Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of > 80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC, prophylactic gastrectomy is advised for this patient group. Little is known about other types of familial gastric cancer. The Dutch working group on hereditary gastric cancer has formulated guidelines for various aspects of medical management for families and individuals at high risk of developing gastric cancer, including criteria for referral, classification, diagnostics, and periodic gastric surveillance. These guidelines are not limited to HDGC and are therefore partially complementary to the guidelines on hereditary diffuse gastric cancer of the international gastric cancer linkage consortium (IGCLC 2010). In order to optimize the care and increase the knowledge on hereditary gastric cancer it is important to centralize medical care for these patients. National and international collaboration is warranted to improve the quality of research by increasing the size of study cohorts.