Original CommunicationProphylactic total gastrectomy for individuals with germline CDH1 mutation
Section snippets
Patients
All patients with germline CDH1 mutations who were referred to our institution for prophylactic total gastrectomy between April 2006 and March 2009 are included in this report. Patients were evaluated preoperatively by a multidisciplinary team that included a genetic counselor, gastroenterologist, surgical oncologist, and nutritionist. A complete history and physical examination were performed, CDH1 mutation testing records were obtained, and prior endoscopy reports and other relevant
Results
Ten patients (6 male, 4 female) from 6 different families with known CDH1 mutation were referred to our institution for surgical evaluation from April 2006 to March 2009. There were 6 males and 4 females. The median age was 42 years (range, 27–51).
All 6 families had a strong family history of GC and 5 of 6 families met IGCLC criteria.8 The first patient to undergo prophylactic total gastrectomy for germline CDH1 mutation at our institution has been previously described.21 Figure 1 demonstrates
Discussion
There are few series on prophylactic total gastrectomy for germline CDH1 mutation given the rarity of this mutation and the magnitude of the surgery. In this article, we have described our results in 10 patients with germline CDH1 mutation who underwent prophylactic total gastrectomy. All 10 patients had a strong family history of gastric cancer.8 Preoperative endoscopy identified a focus of diffuse gastric cancer in only 1 patient. Similar to prior series, pathologic analysis of gastrectomy
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Cited by (63)
Factors associated with detection of hereditary diffuse gastric cancer on endoscopy in individuals with germline CDH1 mutations
2023, Gastrointestinal EndoscopyGlobal distribution of prophylactic total gastrectomy in E-cadherin (CDH1) mutations
2022, Seminars in OncologyHereditary diffuse gastric cancer (HDGC). An overview
2022, Clinics and Research in Hepatology and GastroenterologySurveillance and Surgical Considerations in Hereditary Diffuse Gastric Cancer
2022, Gastrointestinal Endoscopy Clinics of North AmericaUpdated perspective and directions on hereditary diffuse gastric cancer
2021, Research and Clinical Applications of Targeting Gastric NeoplasmsHereditary diffuse gastric cancer: updated clinical practice guidelines
2020, The Lancet OncologyCitation Excerpt :All surveillance programmes should be audited and ideally included in a prospective clinical trial. Recent studies from expert centres in HDGC surveillance endoscopy report that signet ring cell carcinoma lesions are detected in gastric biopsies in 40–61% of these carriers of CDH1 variants, most often at the baseline endoscopy (van Dieren J, Netherlands Cancer Institute, personal communication),38,39 although older studies report a lower detection rate of 9–16%.53–56 High-definition endoscopes, image-enhancing techniques (eg, narrow band imaging), and the experience of the endoscopist and pathologist are all factors likely to be related to the increase in signet ring cell carcinoma detection rates in more recent studies.