부산대학교 도서관

Background and aim Although the international guidelines recommend the CDH1 germline mutations screening in patients at risk of carrying pathogenic mutations, few data exist about the compliance to systematic screening programs carried out in surgical centres. Methods In the present manuscript we report the results of CDH1 germline mutations screening, undertaken in patients with gastric cancer and their relatives at high volume surgical centre of Verona University from January 2011 to July 2020. In this study HDGC 2015 Guidelines criteria were used. Results During a 10 years period, we screened 72 subjects; among them, we found a pathogenic germline genetic alteration in 37 (51,4%). 15 patients underwent to surgery due to clinically detectable tumours or positive biopsies during endoscopic surveillance; of note the youngest case of early SRC tumours detected during endoscopy was aged 15 years old. 11 underwent prophylactic gastrectomy: 8 out of 11 (72,7%) presented neoplastic foci in the specimen. During surgical operation, 7 patients required an additional oesophageal resection due to the presence of gastric mucosa at the extemporary frozen section, despite the proximal section was made above the cardia. Conclusion Based on our experience, we can conclude that the CDH1 genetic screening should be absolutely offered to high-risk Western patients, in agreement with the international guidelines. Prophylactic total gastrectomy should be considered in selected cases also under 20 years of age. [ABSTRACT FROM AUTHOR]