Prophylactic total gastrectomy for individuals with germline CDH1 mutation

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Prophylactic total gastrectomy for individuals with germline CDH1 mutation

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Title: Prophylactic total gastrectomy for individuals with germline CDH1 mutation
Author: Pandalai, Prakash K.; Lauwers, Gregory Y.; Chung, Daniel Chulyong; Patel, Devanshi; Yoon, Sam

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Citation: Pandalai, Prakash K., Greg Y. Lauwers, Daniel C. Chung, Devanshi Patel, and Sam S. Yoon. 2011. “Prophylactic Total Gastrectomy for Individuals with Germline CDH1 Mutation.” Surgery 149 (3) (March): 347–355. doi:10.1016/j.surg.2010.07.005.
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Germline mutation of the CDH1 gene, which encodes for the E-cadherin adhesion protein, is rare but confers an estimated lifetime risk of hereditary diffuse gastric cancer of 87%. Fewer than 100 prophylactic total gastrectomies have been reported for this condition.
Patients with germline CDH1 mutation who underwent multidisciplinary counseling followed by prophylactic total gastrectomy were reviewed.
Ten patients (6 male, 4 female) with a median age of 42 years (range, 26-51) underwent prophylactic total gastrectomy between 2006 and 2009. Of the 6 families represented, there were 4 missense, 1 frameshift, and 1 splice site mutation. Median time from genetic testing to surgery was 3 months (range, 1-7). All patients had an upper endoscopy before surgery, identifying only 1 patient with a focus of diffuse gastric cancer. After prophylactic total gastrectomy, extensive pathologic analysis demonstrated that 9 patients had up to 77 foci of noninvasive cancer, and 2 of these patients had 4-12 foci of T1 invasive cancer. Median operative time was 213 minutes; there were no anastomotic leaks, and the length of stay was 7-8 days. One patient had a complication within 30 days (pulmonary embolism), and 3 patients had late complications (2 small bowel obstructions and 1 anastomotic stricture). Median weight loss at 6 months was 19%.
The majority of patients with germline CDH1 mutation have foci of noninvasive or invasive gastric cancer by middle age. Serial upper endoscopies provide inadequate screening. Prophylactic total gastrectomy is the procedure of choice for definitive treatment.
Published Version: doi:10.1016/j.surg.2010.07.005
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