遗传性胃癌的诊疗进展

Progress in Diagnosis and Treatment of Hereditary Gastric Cancer

随着遗传性胃癌发现,并建立起标准的诊断、发病机制等相关研究,使得人们对特殊遗传性胃癌了解程度更加深入。遗传性胃癌是一个系统性疾病,其遗传特性非常复杂,部分存在明确相关的胚系基因突变,部分尚未明确遗传原因。目前认为CDH1基因突变被证实与遗传性胃癌关系紧密,多以染色体显性的方式遗传。国际上有关遗传性胃癌基因突变携带者随访及筛查策略日渐完善,但国内缺乏相关研究。为此,有关基因筛查、治疗及随访内容探讨对弥补国内遗传性胃癌知识点尤为重要。目前,对遗传性胃癌主要分为3种类型进行临床管理,包括:遗传性弥漫型胃癌(HDGC)、家族性肠型胃癌(FIGC)、胃腺癌和胃近端息肉病(GAPPS)。该文就遗传性胃癌的诊断、预防和管理的进展情况作一综述,以期为相关临床工作提供参考。

With the discovery of hereditary gastric cancer and the establishment of standard diagnosis and pathogenesis related research,people have a deeper understanding of special hereditary gastric cancer.Hereditary gastric cancer is a systemic disease,its genetic characteristics are very complex,some of which have clearly related germline gene mutations,and some have not yet clear genetic causes.It is currently believed that CDH1 gene mutations have been confirmed to be closely related to hereditary gastric cancer,and are mostly inherited in a chromosomal dominant manner.International follow-up and screening strategies for hereditary gastric cancer gene mutation carriers are improving,but there is a lack of relevant research in China.For this reason,the discussion on the content of genetic screening,treatment and follow-up is particularly important to make up for the knowledge points of domestic hereditary gastric cancer.Currently,hereditary gastric cancer is mainly divided into three types for clinical management,including:hereditary diffuse gastric cancer(HDGC),familial intestinal gastric cancer(FIGC),gastric adenocarcinoma,and proximal gastric polyposis(GAPPS).The article reviews the progress of the diagnosis,prevention and management of hereditary gastric cancer in order to provide references for related clinical work.