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Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?
Y S Chun1, N M Lindor, T C Smyrk
1Department of Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA.
Cancer
|July 10, 2001
Summary
Germline CDH1 mutations increase hereditary diffuse gastric carcinoma risk. Prophylactic total gastrectomy in mutation carriers revealed occult cancer, suggesting it may be the management of choice despite potential morbidity.
Area of Science:
- Genetics and Oncology
- Gastroenterology
Background:
- Germline CDH1 mutations are linked to hereditary diffuse gastric carcinoma (HDGC).
- HDGC inheritance follows an autosomal dominant pattern with incomplete penetrance.
Observation:
- A family with a strong history of HDGC was identified.
- Five family members with germline CDH1 mutations underwent prophylactic total gastrectomy.
- Endoscopic evaluations prior to surgery were negative for malignancy.
Findings:
- Occult intramucosal signet ring cell adenocarcinoma was found in all five patients' post-gastrectomy specimens.
- Diminished or absent E-cadherin expression was observed in cancerous gastric mucosa.
Implications:
- Prophylactic total gastrectomy may be curative for gastric carcinoma in CDH1 mutation carriers.
- Given the lack of effective surveillance, prophylactic gastrectomy is a potential management strategy for HDGC.
- The procedure carries significant morbidity and should be approached cautiously.