Factors associated with detection of hereditary diffuse gastric cancer on endoscopy in individuals with germline CDH1 mutations Journal Article
| Authors: | Laszkowska, M.; Tang, L.; Vos, E.; King, S.; Salo-Mullen, E.; Magahis, P. T.; Abate, M.; Catchings, A.; Zauber, A. G.; Hahn, A. I.; Schattner, M.; Coit, D.; Stadler, Z. K.; Strong, V. E.; Markowitz, A. J. |
| Article Title: | Factors associated with detection of hereditary diffuse gastric cancer on endoscopy in individuals with germline CDH1 mutations |
| Abstract: | Background and Aims: Individuals with germline pathogenic CDH1 variants have a high risk of hereditary diffuse gastric cancer. The sensitivity of EGD in detecting signet ring cell carcinoma (SRCC) in this population is low. We aimed to identify endoscopic findings and biopsy practices associated with detection of SRCC. Methods: This retrospective cohort included individuals with a germline pathogenic/likely pathogenic CDH1 variant undergoing at least 1 EGD at Memorial Sloan Kettering Cancer Center between January 1, 2006, and March 25, 2022. The primary outcome was detection of SRCC on EGD. Findings on gastrectomy were also assessed. The study included periods before and after implementation of the Cambridge protocol for endoscopic surveillance, allowing for assessment of a spectrum of biopsy practices. Results: Ninety-eight CDH1 patients underwent at least 1 EGD at our institution. SRCC was detected in 20 (20%) individuals on EGD overall and in 50 (86%) of the 58 patients undergoing gastrectomy. Most SRCC foci were detected in the gastric cardia/fundus (EGD, 50%; gastrectomy, 62%) and body/transition zone (EGD, 60%; gastrectomy, 62%). Biopsy results of gastric pale mucosal areas were associated with detection of SRCC (P <.01). The total number of biopsy samples taken on EGD was associated with increased detection of SRCC (P =.01), with 43% detected when ≥40 samples were taken. Conclusions: Targeted biopsy sampling of gastric pale mucosal areas and increasing number of biopsy samples taken on EGD were associated with detection of SRCC. SRCC foci were mostly detected in the proximal stomach, supporting updated endoscopic surveillance guidelines. Further studies are needed to refine endoscopic protocols to improve SRCC detection in this high-risk population. © 2023 American Society for Gastrointestinal Endoscopy |
| Keywords: | adult; controlled study; human tissue; cancer surgery; retrospective studies; gene mutation; major clinical study; genetics; outcome assessment; adenocarcinoma; cohort analysis; practice guideline; pathology; retrospective study; uvomorulin; germ line; gastrectomy; high risk population; antigens, cd; endoscopy; cadherin; cadherins; stomach neoplasms; gastroscopy; signet ring carcinoma; carcinoma, signet ring cell; leukocyte antigen; germ-line mutation; stomach tumor; stomach fundus; hereditary diffuse gastric cancer; germline mutation; procedures; cardia; stomach biopsy; cdh1 protein, human; humans; human; male; female; article |
| Journal Title: | Gastrointestinal Endoscopy |
| Volume: | 98 |
| Issue: | 3 |
| ISSN: | 0016-5107 |
| Publisher: | Mosby Elsevier |
| Date Published: | 2023-09-01 |
| Start Page: | 326 |
| End Page: | 336.e3 |
| Language: | English |
| DOI: | 10.1016/j.gie.2023.04.2071 |
| PUBMED: | 37094689 |
| PROVIDER: | scopus |
| PMCID: | PMC10524178 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF -- Corresponding author is MSK author: Arnold J. Markowitz -- Source: Scopus |
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