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Case report
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome
  1. D L Worthley1,
  2. K D Phillips2,
  3. N Wayte3,
  4. K A Schrader4,
  5. S Healey5,
  6. P Kaurah4,
  7. A Shulkes6,
  8. F Grimpen7,
  9. A Clouston7,
  10. D Moore8,
  11. D Cullen9,
  12. D Ormonde9,
  13. D Mounkley10,
  14. X Wen11,
  15. N Lindor12,
  16. F Carneiro11,
  17. D G Huntsman4,
  18. G Chenevix-Trench5,
  19. G K Suthers2,13
  1. 1Division of Digestive and Liver Diseases, Columbia University, New York, New York, USA
  2. 2SA Clinical Genetics Service, SA Pathology, South Australia, Australia
  3. 3School of Medicine, University of Queensland, Queensland, Australia
  4. 4Hereditary Cancer Program, BC Cancer Agency, British Columbia, Canada
  5. 5Queensland Institute of Medical Research, Queensland, Australia
  6. 6Department of Surgery, University of Melbourne, Victoria, Australia
  7. 7Royal Brisbane and Women's Hospital, Queensland, Australia
  8. 8Women's and Children's Hospital, South Australia, Australia
  9. 9St John of God Hospital, Western Australia, Australia
  10. 10Flinders Medical Centre, South Australia, Australia
  11. 11Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) and Medical Faculty/Hospital S. João, Porto, Portugal
  12. 12Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
  13. 13Department of Paediatrics, School of Paediatrics & Reproductive Health, Faculty of Health Sciences, University of Adelaide, SA, Australia
  1. Correspondence to Dr Graeme Suthers, SA Clinical Genetics Service SA Pathology Women's & Children's Hospital, North Adelaide, SA 5006, Australia; graeme.suthers{at}health.sa.gov.au

Abstract

Objective The purpose of this study was the clinical and pathological characterisation of a new autosomal dominant gastric polyposis syndrome, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).

Methods Case series were examined, documenting GAPPS in three families from Australia, the USA and Canada. The affected families were identified through referral to centralised clinical genetics centres.

Results The report identifies the clinical and pathological features of this syndrome, including the predominant dysplastic fundic gland polyp histology, the exclusive involvement of the gastric body and fundus, the apparent inverse association with current Helicobacter pylori infection and the autosomal dominant mode of inheritance.

Conclusions GAPPS is a unique gastric polyposis syndrome with a significant risk of gastric adenocarcinoma. It is characterised by the autosomal dominant transmission of fundic gland polyposis, including areas of dysplasia or intestinal-type gastric adenocarcinoma, restricted to the proximal stomach, and with no evidence of colorectal or duodenal polyposis or other heritable gastrointestinal cancer syndromes.

  • Genetics
  • gastric adenocarcinoma
  • polyposis
  • gastric neoplasia
  • stem cells
  • intestinal stem cell
  • cancer
  • inflammation
  • molecular genetics
  • cancer genetics
  • cancer syndromes
  • oesophageal cancer
  • gastric cancer
  • histopathology
  • fatty liver
  • liver transplantation
  • paediatric gastroenterology
  • cancer prevention
  • cancer epidemiology
  • cancer registries
  • cancer susceptibility
  • family cancer
  • Helicobacter pylori
  • acid-related diseases
  • non-ulcer dyspepsia
  • genetic polymorphisms
  • colorectal cancer genes
  • microsatellite instability
  • cell cycle
  • gastrointestinal neoplasia
  • molecular pathology
  • polyposis

https://doi.org/10.1136/gutjnl-2011-300348

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    Footnotes

    • Funding This study received support from the National Health and Medical Research Council of Australia.

    • Competing interests None.

    • Ethics approval This study was appoved by the local institutional review board.

    • Provenance and Peer review Not commissioned; externally peer reviewed.

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      Correction
      BMJ Publishing Group Ltd and British Society of Gastroenterology
      Gut 2012; 61 1305-1305 Published Online First: 13 Aug 2012. doi: 10.1136/gutjnl-2011-300348corr1