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Erschienen in: Journal of Gastroenterology 2/2021

18.11.2020 | Original Article—Alimentary Tract

Enhanced endoscopic detection of occult gastric cancer in carriers of pathogenic CDH1 variants

verfasst von: Bryan Franklin Curtin, Lauren Ann Gamble, Samuel Ali Schueler, Samantha Marilyn Ruff, Martha Quezado, Markku Miettinen, Grace-Ann Fasaye, Monica Passi, Jonathan Matthew Hernandez, Theo Heller, Christopher Koh, Jeremy Lee Davis

Erschienen in: Journal of Gastroenterology | Ausgabe 2/2021

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Abstract

Background

Germline inactivating variants in the CDH1 tumor suppressor gene impart an elevated lifetime risk of diffuse gastric cancer. The current endoscopic surveillance method depends upon random gastric biopsies for early cancer detection.

Methods

Asymptomatic adults with pathogenic or likely pathogenic CDH1 variants referred for endoscopic gastric cancer surveillance were included in this retrospective cohort. Upper gastrointestinal endoscopy was performed according to the consensus Cambridge method, in the early period, or a systematic (Bethesda) protocol as part of an ongoing natural history study. The primary outcome measure was cancer detection.

Results

Collectively, 135 endoscopic surveillance procedures were performed in 120 patients. Twenty-six (19%, 26/135) procedures were performed using Cambridge method and 109 (81%) using the Bethesda protocol. Gastric signet ring cell carcinomas were detected in 15% (4/26) using the Cambridge method and 36% (40/109) using the Bethesda protocol (p < 0.05). Almost half (44.2%, 53/120) of patients later elected for prophylactic total gastrectomy, of whom 51 (96%, 51/53) had a signet ring cell carcinoma (T1a) discovered by histopathology. On a per endoscopy basis, the false-negative rates of detection using Cambridge method and Bethesda protocol were 80% (12/15) and 37.7% (17/45), respectively (p < 0.01).

Conclusions

Gastric cancer detection was more frequent with implementation of a systematic surveillance protocol in CDH1 variant carriers. Given the decision for prophylactic surgery is often made by patients in the context of family history and pathologic result of surveillance biopsies, we propose the Bethesda protocol offers patients an opportunity to make more informed decisions.
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Metadaten
Titel
Enhanced endoscopic detection of occult gastric cancer in carriers of pathogenic CDH1 variants
verfasst von
Bryan Franklin Curtin
Lauren Ann Gamble
Samuel Ali Schueler
Samantha Marilyn Ruff
Martha Quezado
Markku Miettinen
Grace-Ann Fasaye
Monica Passi
Jonathan Matthew Hernandez
Theo Heller
Christopher Koh
Jeremy Lee Davis
Publikationsdatum
18.11.2020
Verlag
Springer Singapore
Erschienen in
Journal of Gastroenterology / Ausgabe 2/2021
Print ISSN: 0944-1174
Elektronische ISSN: 1435-5922
DOI
https://doi.org/10.1007/s00535-020-01749-w

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