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Peutz–Jeghers syndrome: a systematic review and recommendations for management
  1. A D Beggs1,
  2. A R Latchford2,
  3. H F A Vasen3,
  4. G Moslein4,
  5. A Alonso5,
  6. S Aretz6,
  7. L Bertario7,
  8. I Blanco8,
  9. S Bülow9,
  10. J Burn10,
  11. G Capella11,
  12. C Colas12,
  13. W Friedl6,
  14. P Møller13,
  15. F J Hes14,
  16. H Järvinen15,
  17. J-P Mecklin16,
  18. F M Nagengast17,
  19. Y Parc18,
  20. R K S Phillips19,
  21. W Hyer19,
  22. M Ponz de Leon20,
  23. L Renkonen-Sinisalo15,
  24. J R Sampson21,
  25. A Stormorken22,
  26. S Tejpar23,
  27. H J W Thomas24,
  28. J T Wijnen14,
  29. S K Clark19,
  30. S V Hodgson1
  1. 1Department of Clinical Genetics, St George's Hospital, London, UK
  2. 2Department of Gastroenterology, Derriford Hospital, University of Plymouth, Devon, UK
  3. 3Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
  4. 4Department of Surgery, St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany
  5. 5Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
  6. 6Institute of Human Genetics, University of Bonn, Germany
  7. 7Department of Surgery, Hospital Tumori, Milan, Italy
  8. 8Genetic Counselling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology, Barcelona, Spain
  9. 9Danish Polyposis Registry, Department of Surgery, Hvidovre University Hospital, Hvidovre, Denmark
  10. 10Institute of Human Genetics, Newcastle-upon-Tyne, UK
  11. 11Institute Catala D'Oncologia, Barcelona, Spain
  12. 12Laboratoire d'Oncogenetique, Groupe Hospitalier Pitié-Salpêtre, Paris
  13. 13Section of Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radium Hospitalet Medical Centre, Oslo, Norway
  14. 14Departments of Human & Clinical Genetics, Leiden University Medical Centre, The Netherlands
  15. 15Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
  16. 16Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
  17. 17Department of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands
  18. 18Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
  19. 19The Polyposis Registry, St Mark's Hospital, Harrow, Middlesex, UK
  20. 20Department of Internal Medicine, University Hospital, Modena, Italy
  21. 21Institute of Medical Genetics, School of Medicine, Cardiff University, UK
  22. 22Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
  23. 23Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium
  24. 24CRUK, Family Cancer Group, St Mark's Hospital, Harrow, Middlesex, UK
  1. Correspondence to Professor Shirley Hodgson, Department of Clinical Genetics, St Georges, University of London, Cranmer Terrace, London SW17 ORE, UK; shodgson{at}sgul.ac.uk

Abstract

Peutz–Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management.

This review assesses the current literature on the clinical features and management of the condition, genotype–phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.

  • Peutz–Jegher syndrome
  • hamartoma
  • polyp
  • screening
  • colonic polyps
  • polyposis
  • screening

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Footnotes

  • Competing interests None.

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

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