Hereditary diffuse gastric cancer: a case report

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.