Article Text

PDF
Peutz–Jeghers syndrome polyps are polyclonal with expanded progenitor cell compartment
  1. W W J de Leng1,
  2. M Jansen1,2,
  3. J J Keller3,4,
  4. M de Gijsel4,5,
  5. A N A Milne6,
  6. F H M Morsink6,
  7. M A J Weterman7,8,
  8. C A Iacobuzio-Donahue9,
  9. H C Clevers10,
  10. F M Giardiello11,
  11. G J A Offerhaus12
  1. 1Department of Pathology, University Medical Centre Utrecht, Utrecht, Netherlands
  2. 2Hubrecht Laboratory, Centre for Biomedical Genetics, Utrecht, Netherlands
  3. 3Department of Gastroenterology, Academic Medical Centre, Amsterdam, Netherlands
  4. 4Department of Pathology, Academic Medical Centre, Amsterdam, Netherlands
  5. 5Department of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, Netherlands
  6. 6Department of Pathology, University Medical Centre Utrecht, Utrecht, Netherlands
  7. 7Department of Pathology, Academic Medical Centre, Amsterdam, Netherlands
  8. 8Department of Neurogenetics, Academic Medical Centre, Amsterdam, Netherlands
  9. 9Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  10. 10Hubrecht Laboratory, Centre for Biomedical Genetics, Utrecht, Netherlands
  11. 11Department of Medicine, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  12. 12Department of Pathology, University Medical Centre Utrecht, Utrecht, Netherlands
  1. Correspondence to:
    Wendy W J de Leng
    Department of Pathology, H04-312, University Medical Centre Utrecht, Postbox 85500, 3508 GA Utrecht, Netherlands; W.W.J.deLeng{at}umcutrecht.nl

Statistics from Altmetric.com

Peutz–Jeghers syndrome (PJS) is an autosomal dominant cancer susceptibility syndrome characterised by mucocutaneous melanin pigmentation, hamartomatous polyps, and an 18-fold increase in intestinal and extraintestinal cancer risk.1 PJS is caused by a germline mutation in LKB1, a gene that plays a role in cellular polarity.2 Proper cellular polarity is critical for accurate asymmetrical stem cell division.3 The pathogenesis and neoplastic risk, if any, of hamartomatous Peutz–Jeghers polyps remain unclear.

Based on rare observations of neoplastic changes in PJS polyps and the finding of biallelic inactivation of the gene involved in PJS, the existence of a unique hamartoma–carcinoma sequence has been proposed in this disorder.4,5 This concept suggests that PJS polyps are clonal premalignant lesions responsible, at least in part, for the high rates of gastrointestinal cancer in these patients. However, dysplastic changes have been found rarely. Clarification of the risk of neoplastic transformation in PJS polyps would assist …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.