携带胚系致病变异且有Roux-en-Y胃旁路手术史患者的管理考量
Management Considerations in a Patient With a Germline Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery.
作者信息
Naseem Zehra, Mejia-Perez Lady Katherine, Friedman Kenneth, LaGuardia Lisa, Walsh R Matthew, Burke Carol A
机构信息
Department of Internal Medicine, Cleveland Clinic, Cleveland, OH.
Department of Gastroenterology and Hepatology, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH.
出版信息
ACG Case Rep J. 2025 Feb 5;12(2):e01616. doi: 10.14309/crj.0000000000001616. eCollection 2025 Feb.
Individuals with a germline pathogenic variant in the 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 pathogenic variant.
该基因存在种系致病变异的个体，患晚期弥漫性胃癌（DGC）的终生风险高达10.3%，患乳腺癌的风险为37%-52%，尤其是小叶亚型。指南建议，有DGC家族史的患者在18至40岁之间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，按照推荐方案进行年度内镜监测是一种替代方法。本病例回顾了一名有Roux-en-Y胃旁路手术史的患者的治疗情况，该患者在一年后因种系致病变异被诊断为小叶乳腺癌。
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