CASE REPORT article
Front. Oncol.
Sec. Gastrointestinal Cancers: Gastric and Esophageal Cancers
This article is part of the Research TopicReal-World Clinical and Translational Research in Gastrointestinal CancersView all 22 articles
Hereditary diffuse gastric cancer: A case report
Provisionally accepted
- The Second Hospital of Liaocheng Affiliated to Shandong First Medical University, linqing, China
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Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant genetic syndrome characterized by distinct clinical and genetic features. It exhibits low clinical incidence, familial clustering, early onset, insidious progression, and challenges in early diagnosis. In addition, HDGC is marked by poor tumor differentiation, high malignancy, specific gene mutations, frequent occurrence of extra-gastric tumors, and a high risk of inheritance, which poses significant challenges to clinical medicine, medical genetics, and reproductive medicine. In this study, we have reported a case of HDGC in a three-generation Chinese family of four individuals. By integrating clinical, pathological, imaging, genetic mutation, family history, diagnostic and treatment process, and the survival outcome data, it fully demonstrates the clinical heterogeneity of HDGC and the considerable dilemmas encountered in its management. These findings together provide valuable insights into the clinical diagnosis and treatment of related cases, literature research, as well as the management of cancer-related genetic diseases and reproductive health.
Keywords: Hereditary Diffuse Gastric Cancer, CDH1, Signet-ring cell carcinoma, E-cadherin, Hereditary gastric cancer
Received: 24 May 2025; Accepted: 14 Nov 2025.
Copyright: © 2025 Li, An and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lili Li, lili1185459624@163.com
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