Long-term Endoscopic Surveillance in Hereditary Diffuse Gastric Cancer Syndrome.

CDH1

Germline pathogenic or likely pathogenic CDH1 variants, conferring a high risk of gastric signet-ring cell carcinoma

Hereditary diffuse gastric cancer (HDGC) syndrome arises from a germline CDH1 variant and is characterised by a high risk of gastric signet-ring cell carcinoma; total gastrectomy is the most definitive risk-reducing strategy but carries high morbidity, and data on long-term outcomes of endoscopic surveillance, an alternative, are limited. The authors retrospectively analysed the records of 102 patients with a pathogenic or likely pathogenic CDH1 variant at Massachusetts General Hospital (68 women and 34 men, mean age at diagnosis 42.1 years), defining short-term surveillance as under 3 years and long-term surveillance as 3 years or more. Thirty-four patients opted for immediate risk-reducing gastrectomy and 40 pursued endoscopic surveillance, split into 20 patients in short-term surveillance (median follow-up 1.4 years) and 20 in long-term surveillance (median follow-up 5.1 years). Two advanced gastric cancers (>T1a) were identified, both in the long-term surveillance group; both were managed with gastrectomy, the patients remain cancer-free, and there were no gastric cancer-related deaths. The authors conclude that long-term endoscopic surveillance identified advanced gastric cancers at treatable stages without any gastric cancer-related mortality, and that it may be a reasonable long-term strategy for select individuals.

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

The reassuring message (two advanced cancers found at a treatable stage, no gastric cancer-related death) rests on only 20 patients in long-term surveillance, with a median follow-up of 5.1 years, and the fact that both advanced cancers occurred precisely in this group is a reminder that surveillance does not rule out progression. The abstract reports no comparison with the 34 patients who underwent immediate surgery and does not say how patients chose surveillance: this is a single-centre retrospective series, sensitive to that choice. The phrase "for select individuals" therefore matters more than the figure: these data support supervised surveillance discussed case by case, not a general alternative to gastrectomy.

Analysis by Dr Thibaut Benquey