Rachel S van der Post1, Jolanda van Dieren2, Anna Grelack3, Nicoline Hoogerbrugge4, Lizet E van der Kolk5, Petur Snaebjornsson6, Iris Lansdorp-Vogelaar7, J Han van Krieken1, Tanya M Bisseling3, Annemieke Cats2. 1. Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands. 2. Department of Gastroenterology, Netherlands Cancer Institute/Antoni van Leeuwenhoek, Amsterdam, the Netherlands. 3. Department of Gastroenterology, Radboud University Medical Center, Nijmegen, the Netherlands. 4. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. 5. Department of Clinical Genetics, Netherlands Cancer Institute/Antoni van Leeuwenhoek, Amsterdam, the Netherlands. 6. Department of Pathology, Netherlands Cancer Institute/Antoni van Leeuwenhoek, Amsterdam, the Netherlands. 7. Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Abstract
BACKGROUND AND AIMS: The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients. METHODS: In this retrospective observational cohort study, in 2 expert centers in the Netherlands data were collected on FDRs from families fulfilling the international HDGC criteria that underwent endoscopic screening. Extensive inspection of the stomach was performed by gastroscopy, taking random and/or targeted stomach biopsy specimens to identify diffuse-type gastric cancer. RESULTS: Between 2004 and 2016, 90 persons (40% men; mean age, 48 years) from 40 families were offered endoscopic screening. The mean number of endoscopies per person was 3. The mean follow-up time was 46 months and mean endoscopic interval 20 months. Signet ring cell carcinoma foci restricted to the mucosa (pT1a) were identified in 4 persons (4%) from 1 family, which afterward was diagnosed with a germline CTNNA1 mutation. Advanced poorly cohesive gastric carcinoma was diagnosed in 1 person from another family. Intestinal metaplasia was diagnosed in 38 persons (42%) and low-grade dysplasia in 4 persons (4%). Additionally, in 40 persons (44%) scar tissue was observed in the gastric mucosa, which can hinder the endoscopic detection of small white lesions typical for HDGC. CONCLUSIONS: Endoscopic screening in HDGC families without a pathogenic CDH1 mutation may be reasonable, as we detected signet ring cell carcinomas in 6% of persons screened. However, the criteria and frequency of screening may have to be reconsidered.
BACKGROUND AND AIMS: The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients. METHODS: In this retrospective observational cohort study, in 2 expert centers in the Netherlands data were collected on FDRs from families fulfilling the international HDGC criteria that underwent endoscopic screening. Extensive inspection of the stomach was performed by gastroscopy, taking random and/or targeted stomach biopsy specimens to identify diffuse-type gastric cancer. RESULTS: Between 2004 and 2016, 90 persons (40% men; mean age, 48 years) from 40 families were offered endoscopic screening. The mean number of endoscopies per person was 3. The mean follow-up time was 46 months and mean endoscopic interval 20 months. Signet ring cell carcinoma foci restricted to the mucosa (pT1a) were identified in 4 persons (4%) from 1 family, which afterward was diagnosed with a germline CTNNA1 mutation. Advanced poorly cohesive gastric carcinoma was diagnosed in 1 person from another family. Intestinal metaplasia was diagnosed in 38 persons (42%) and low-grade dysplasia in 4 persons (4%). Additionally, in 40 persons (44%) scar tissue was observed in the gastric mucosa, which can hinder the endoscopic detection of small white lesions typical for HDGC. CONCLUSIONS: Endoscopic screening in HDGC families without a pathogenic CDH1 mutation may be reasonable, as we detected signet ring cell carcinomas in 6% of persons screened. However, the criteria and frequency of screening may have to be reconsidered.
Authors: Vanessa R Blair; Maybelle McLeod; Fátima Carneiro; Daniel G Coit; Johanna L D'Addario; Jolanda M van Dieren; Kirsty L Harris; Nicoline Hoogerbrugge; Carla Oliveira; Rachel S van der Post; Julie Arnold; Patrick R Benusiglio; Tanya M Bisseling; Alex Boussioutas; Annemieke Cats; Amanda Charlton; Karen E Chelcun Schreiber; Jeremy L Davis; Massimiliano di Pietro; Rebecca C Fitzgerald; James M Ford; Kimberley Gamet; Irene Gullo; Richard H Hardwick; David G Huntsman; Pardeep Kaurah; Sonia S Kupfer; Andrew Latchford; Paul F Mansfield; Takeshi Nakajima; Susan Parry; Jeremy Rossaak; Haruhiko Sugimura; Magali Svrcek; Marc Tischkowitz; Toshikazu Ushijima; Hidetaka Yamada; Han-Kwang Yang; Adrian Claydon; Joana Figueiredo; Karyn Paringatai; Raquel Seruca; Nicola Bougen-Zhukov; Tom Brew; Simone Busija; Patricia Carneiro; Lynn DeGregorio; Helen Fisher; Erin Gardner; Tanis D Godwin; Katharine N Holm; Bostjan Humar; Caroline J Lintott; Elizabeth C Monroe; Mark D Muller; Enrique Norero; Yasmin Nouri; Joana Paredes; João M Sanches; Emily Schulpen; Ana S Ribeiro; Andrew Sporle; James Whitworth; Liying Zhang; Anthony E Reeve; Parry Guilford Journal: Lancet Oncol Date: 2020-08 Impact factor: 41.316
Authors: Apostolos Pappas; Wei Keith Tan; William Waldock; Susan Richardson; Monika Tripathi; Wladyslaw Januszewicz; Geoffrey Roberts; Maria O'Donovan; Rebecca C Fitzgerald; Massimiliano di Pietro Journal: Endoscopy Date: 2020-07-17 Impact factor: 10.093