John H Rodriguez, MD, Kevin M El-Hayek, MD, Matthew Kroh, MD, Sricharan Chalikonda, MD, Matthew Walsh, MD. Cleveland Clinic Foundation.
Hereditary diffuse gastric cancer resulting from a germline mutation of the CDH-1 gene is rare. Guidelines for the management of carriers of CDH-1 mutations have been described and include prophylactic gastrectomy at an early age.
We present the case of two siblings, age 19 and 22 years, who met clinical criteria for CDH-1 mutation testing according to the International Gastric Cancer Linkage Consortium (IGCLC). Both tested positive for CDH-1 mutation. Prophylactic gastrectomy was recommended.
Laparoscopic total gastrectomy with roux en Y reconstruction was performed on both siblings. Proximal margin was confirmed by the presence of squamous esophageal epithelium on frozen section in both cases. Length of stay was 4 days for sibling #1 and 5 days for sibling #2. There was no 30 day morbidity. Pathology specimens were analysed and revealed multiple foci of intramucosal signet ring cell carcinoma on both cases.
Prophylactic total gastrectomy is the only option to eliminate the risk of gastric cancer in patients with CDH-1 mutation. Laparoscopic total gastrectomy can be performed safely in these patients with excellent results.