遗传性上消化道肿瘤的筛查和监测

IF 3.2 3区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY

Best Practice & Research Clinical Gastroenterology Pub Date : 2025-03-01 DOI:10.1016/j.bpg.2025.102018

Lianlian Wu , Massimiliano di Pietro

{"title":"遗传性上消化道肿瘤的筛查和监测","authors":"Lianlian Wu , Massimiliano di Pietro","doi":"10.1016/j.bpg.2025.102018","DOIUrl":null,"url":null,"abstract":"<div><div>Upper GI cancer has poor prognosis. Of all upper GI malignancies, 1–3 % have a well-defined germline genetic cause. Hereditary upper GI cancers include squamous cell carcinoma as part of Tylosis, signet ring cell carcinoma of the stomach occurring in the context of hereditary diffuse gastric cancer syndrome, gastric adenocarcinoma affecting individuals with familial adenomatous polyposis syndrome (FAP), Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch, Juvenile Polyposis and Peutz-Jeghers Syndromes, and duodenal adenocarcinoma, for which individuals with FAP and Lynch syndromes are at increased risk. This review will discuss the management of people with suspected or confirmed hereditary syndromes related to increased risk of upper GI cancers, with particular reference to indication for genetic testing, age of start of endoscopic screening, best practice in relation to endoscopic surveillance and indication for surgery.</div></div>","PeriodicalId":56031,"journal":{"name":"Best Practice & Research Clinical Gastroenterology","volume":"75 ","pages":"Article 102018"},"PeriodicalIF":3.2000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Screening and surveillance of hereditary upper GI cancers\",\"authors\":\"Lianlian Wu , Massimiliano di Pietro\",\"doi\":\"10.1016/j.bpg.2025.102018\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Upper GI cancer has poor prognosis. Of all upper GI malignancies, 1–3 % have a well-defined germline genetic cause. Hereditary upper GI cancers include squamous cell carcinoma as part of Tylosis, signet ring cell carcinoma of the stomach occurring in the context of hereditary diffuse gastric cancer syndrome, gastric adenocarcinoma affecting individuals with familial adenomatous polyposis syndrome (FAP), Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch, Juvenile Polyposis and Peutz-Jeghers Syndromes, and duodenal adenocarcinoma, for which individuals with FAP and Lynch syndromes are at increased risk. This review will discuss the management of people with suspected or confirmed hereditary syndromes related to increased risk of upper GI cancers, with particular reference to indication for genetic testing, age of start of endoscopic screening, best practice in relation to endoscopic surveillance and indication for surgery.</div></div>\",\"PeriodicalId\":56031,\"journal\":{\"name\":\"Best Practice & Research Clinical Gastroenterology\",\"volume\":\"75 \",\"pages\":\"Article 102018\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Best Practice & Research Clinical Gastroenterology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1521691825000459\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best Practice & Research Clinical Gastroenterology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521691825000459","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

上消化道肿瘤预后较差。在所有上消化道恶性肿瘤中，1 - 3%有明确的生殖系遗传病因。遗传性上消化道癌症包括作为Tylosis一部分的鳞状细胞癌，发生在遗传性弥漫性胃癌综合征背景下的胃印戒细胞癌，发生在家族性腺瘤性息肉病综合征（FAP）个体的胃腺癌，胃腺癌和近端胃息肉病（GAPPS）， Lynch，青少年息肉病和Peutz-Jeghers综合征，以及十二指肠腺癌。患有FAP和Lynch综合征的人患病风险更高。本综述将讨论与上消化道癌症风险增加相关的疑似或确诊遗传综合征患者的管理，特别涉及基因检测的适应症、开始内镜筛查的年龄、与内镜监测有关的最佳实践和手术适应症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Screening and surveillance of hereditary upper GI cancers

Upper GI cancer has poor prognosis. Of all upper GI malignancies, 1–3 % have a well-defined germline genetic cause. Hereditary upper GI cancers include squamous cell carcinoma as part of Tylosis, signet ring cell carcinoma of the stomach occurring in the context of hereditary diffuse gastric cancer syndrome, gastric adenocarcinoma affecting individuals with familial adenomatous polyposis syndrome (FAP), Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch, Juvenile Polyposis and Peutz-Jeghers Syndromes, and duodenal adenocarcinoma, for which individuals with FAP and Lynch syndromes are at increased risk. This review will discuss the management of people with suspected or confirmed hereditary syndromes related to increased risk of upper GI cancers, with particular reference to indication for genetic testing, age of start of endoscopic screening, best practice in relation to endoscopic surveillance and indication for surgery.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Best Practice & Research Clinical Gastroenterology 医学-胃肠肝病学

CiteScore

5.50

自引率

0.00%

发文量

审稿时长

69 days

期刊介绍： Each topic-based issue of Best Practice & Research Clinical Gastroenterology will provide a comprehensive review of current clinical practice and thinking within the specialty of gastroenterology.