Young Asymptomatic Twins with a CDH1 Mutation

Monozygotic female twins aged in their late 20s and asymptomatic presented to inquire about prophylactic gastrectomy. Both were carriers of a genetically confirmed CDH1 mutation and reported having two first-degree relatives that had died of diffuse gastric cancer before the age of 38 years. Given their high risk of developing gastric cancer, our hospital recommended prophylactic gastrectomy. In one of the twins, gastroscopy revealed superficial lesions, which were unexpectedly diagnosed by histology as signet ring cell adenocarcinoma. Endoscopy and biopsies were normal in the other twin. The twin diagnosed with gastric carcinoma underwent robot-assisted gastrectomy with Roux-en-Y reconstruction as well as D2 lymphadenectomy. Histological analysis showed adenocarcinoma with a diffuse pattern of growth and signet ring cells (T1, N 0/24). The other twin underwent prophylactic robot-assisted gastrectomy with D2 lymphadenectomy on the same day. No pathological findings were made in the surgical specimen. The postoperative course was unremarkable. Genetically predisposed patients should seek prompt advice at large cancer centers.

Figure

Endoscopic image of a patient with a CDH1 mutation and signet ring cell focus

Dr. med. Ahmed Alwali, Dr. med. Diego Zendeh, Prof. Dr. med. Clemens Schafmayer, Klinik und Poliklinik für Allgemein-, Viszeral-, Thorax-, Gefäß- und Transplantationschirurgie, Universitätsmedizin Rostock, [e-mail]

Conflict of interest statement: The authors state that no conflict of interest exists.

Translated from the original German by Christine Rye.

Cite this as: Alwali A, Zendeh D, Schafmayer C: Young asymptomatic twins with a CDH1 mutation. Dtsch Arztebl Int 2025; 122: 218. DOI: 10.3238/arztebl.m2025.0044