一种系CDH1致病变异并有Roux-en-Y胃旁路手术史患者的处理考虑。

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY

ACG Case Reports Journal Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI:10.14309/crj.0000000000001616

Zehra Naseem, Lady Katherine Mejia-Perez, Kenneth Friedman, Lisa LaGuardia, R Matthew Walsh, Carol A Burke

{"title":"一种系CDH1致病变异并有Roux-en-Y胃旁路手术史患者的处理考虑。","authors":"Zehra Naseem, Lady Katherine Mejia-Perez, Kenneth Friedman, Lisa LaGuardia, R Matthew Walsh, Carol A Burke","doi":"10.14309/crj.0000000000001616","DOIUrl":null,"url":null,"abstract":"Individuals with a germline pathogenic variant in the CDH1 gene have a lifetime risk of advanced diffuse gastric cancer (DGC) of up to 10.3% and a 37%-52% risk of breast cancer, specifically the lobular subtype. Guidelines recommend prophylactic gastrectomy between ages 18-40 years for those with a family history of DGC. For patients declining surgery or lacking a family history of DGC, annual endoscopic surveillance according to recommended protocols is an alternative. This case reviews the management of a patient with a history of Roux-en-Y gastric bypass followed one year later by a diagnosis of lobular breast cancer due to a germline CDH1 pathogenic variant.","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01616"},"PeriodicalIF":0.6000,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798405/pdf/","citationCount":"0","resultStr":"{\"title\":\"Management Considerations in a Patient With a Germline CDH1 Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery.\",\"authors\":\"Zehra Naseem, Lady Katherine Mejia-Perez, Kenneth Friedman, Lisa LaGuardia, R Matthew Walsh, Carol A Burke\",\"doi\":\"10.14309/crj.0000000000001616\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Individuals with a germline pathogenic variant in the CDH1 gene have a lifetime risk of advanced diffuse gastric cancer (DGC) of up to 10.3% and a 37%-52% risk of breast cancer, specifically the lobular subtype. Guidelines recommend prophylactic gastrectomy between ages 18-40 years for those with a family history of DGC. For patients declining surgery or lacking a family history of DGC, annual endoscopic surveillance according to recommended protocols is an alternative. This case reviews the management of a patient with a history of Roux-en-Y gastric bypass followed one year later by a diagnosis of lobular breast cancer due to a germline CDH1 pathogenic variant.\",\"PeriodicalId\":7394,\"journal\":{\"name\":\"ACG Case Reports Journal\",\"volume\":\"12 2\",\"pages\":\"e01616\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-02-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798405/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACG Case Reports Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14309/crj.0000000000001616\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/2/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACG Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14309/crj.0000000000001616","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/2/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

携带CDH1基因种系致病性变异的个体一生中患晚期弥漫性胃癌（DGC）的风险高达10.3%，患乳腺癌（特别是小叶亚型）的风险为37%-52%。指南建议年龄在18-40岁之间有胃癌家族史的患者进行预防性胃切除术。对于拒绝手术或没有DGC家族史的患者，根据推荐方案进行年度内镜监测是一种选择。本病例回顾了一名患者Roux-en-Y胃旁路手术史，一年后诊断为小叶性乳腺癌，原因是种系CDH1致病性变异。

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

Management Considerations in a Patient With a Germline CDH1 Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery.

Individuals with a germline pathogenic variant in the CDH1 gene have a lifetime risk of advanced diffuse gastric cancer (DGC) of up to 10.3% and a 37%-52% risk of breast cancer, specifically the lobular subtype. Guidelines recommend prophylactic gastrectomy between ages 18-40 years for those with a family history of DGC. For patients declining surgery or lacking a family history of DGC, annual endoscopic surveillance according to recommended protocols is an alternative. This case reviews the management of a patient with a history of Roux-en-Y gastric bypass followed one year later by a diagnosis of lobular breast cancer due to a germline CDH1 pathogenic variant.

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

ACG Case Reports Journal GASTROENTEROLOGY & HEPATOLOGY-

自引率

14.30%

发文量

170

审稿时长

12 weeks

期刊介绍： ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.