Although the majority of gastric carcinomas are sporadic, approximately 10% show familial aggregation, and a hereditary cause is determined in 1%-3% cases. Of these, hereditary diffuse gastric cancer is the most recognized predisposition syndrome. Although rare, the less commonly known syndromes also confer a markedly increased risk for development of gastric cancer. Identification and characterization of these syndromes require a multidisciplinary effort involving oncologists, surgeons, genetic counselors, biologists, and pathologists. This article reviews the molecular genetics, clinical and pathologic features, surveillance guidelines, and preventive measures of common and less common hereditary gastric cancer predisposition syndromes.
摘要
尽管大多数胃癌为散发性,但约有10%表现出家族聚集性,约1%∼3%的患者确诊为遗传性病因。在这些患者中,遗传性弥漫型胃癌是最为人熟知的易感综合征。而一些较不为人知的综合征尽管少见,同样可明显增加发生胃癌的风险。识别和鉴定这些综合征需要包括肿瘤科医生、外科医生、遗传学专家、生物学家和病理学家的多学科协作。本文对常见和较少见的遗传性胃癌易感综合征的分子遗传学、临床和病理特征、监测指南和预防措施进行了综述。The Oncologist 2015;20:1365–1377
对临床实践的提示:尽管多数胃腺癌为散发性,并且其中许多与慢性幽门螺杆菌感染有关,但大约有10%的患者表现为家族聚集性,1%∼3%的病例可确认特异性遗传性病因。本综述描述了常见和较少见遗传性胃癌易感综合征的分子遗传学、临床和病理特征、监测指南和预防措施。最后,更好地理解这些病症的生物学有助于多学科手段的早期识别和干预,这些学科涉及了肿瘤科医生、外科医生、遗传学专家和病理学家。
Keywords: Cancer; Familial; Hereditary; Stomach; Syndromic.
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