Endoscopic detection of signet ring cell carcinoma in CDH1 carriers: a 15-year single-centre experience.

Real-world endoscopic performance (random vs targeted biopsies) for detecting signet ring cell carcinoma in CDH1 carriers, with surgical correlation

CDH1 pathogenic variant carriers are at high risk of hereditary diffuse gastric cancer; endoscopic surveillance is recommended for those who delay risk-reducing gastrectomy, but detecting signet ring cell carcinoma (SRCC) remains difficult. This 15-year retrospective study covers 82 CDH1 carriers from 31 families who underwent 136 endoscopies. SRCC is detected endoscopically in 46.3% of patients, predominantly via random biopsies, with an overall sensitivity of 67.9%, random biopsies outperforming targeted sampling.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Useful real-world data for counselling CDH1 carriers: endoscopy misses about a third of SRCC, reinforcing the role of risk-reducing gastrectomy and the importance of random biopsies when surveillance is chosen. Relevant to the concrete management of carriers, beyond variant identification alone.

Analysis by Dr Thibaut Benquey