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Hereditary Diffuse Gastric Cancer Treated by Prophylactic Total Gastrectomy
Yasunori Inaba1, Kenichi Goda1, Masayuki Kondo1
1Department of Gastroenterology, Dokkyo Medical University, Japan.
Internal Medicine (Tokyo, Japan)
|May 24, 2023
Summary
This study reports a rare case of hereditary diffuse gastric cancer in a Japanese man with a CDH1 mutation. Early endoscopic detection and prophylactic surgery were crucial for managing this aggressive cancer.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Hereditary diffuse gastric cancer (HDGC) is a rare but aggressive malignancy.
- Early detection and genetic counseling are vital for managing HDGC.
- The CDH1 gene mutation is a primary cause of HDGC.
Observation:
- A 41-year-old Japanese man presented with early gastric cancer (signet ring cell carcinoma).
- The patient had a family history of gastric cancer, with his sister dying at age 38.
- Endoscopic submucosal dissection was performed for a small gastric erosion.
Findings:
- Genetic testing revealed a CDH1 germline mutation, confirming HDGC.
- Despite negative endoscopic findings post-dissection, prophylactic total gastrectomy was performed.
- The gastrectomy specimen revealed seven microscopic signet ring cell carcinoma lesions in the lamina propria mucosae.
Implications:
- This case highlights the importance of genetic testing in patients with a family history of gastric cancer.
- Prophylactic gastrectomy can be a life-saving intervention for individuals with CDH1 mutations.
- Early detection of microscopic lesions is critical for successful HDGC management.
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