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Nasal polyposis in Peutz–Jeghers syndrome: a distinct histopathological and molecular genetic entity
  1. Wendy W J de Leng4,
  2. Anne Marie Westerman2,
  3. Marian A J Weterman1,
  4. Marnix Jansen1,
  5. Herman van Dekken2,
  6. Francis M Giardiello3,
  7. Felix W M de Rooij2,
  8. J H Paul Wilson2,
  9. G Johan A Offerhaus4,
  10. Josbert J Keller1
  1. 1Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  2. 2Departments of Internal Medicine and Pathology, Erasmus Medical Center, University of Rotterdam, Rotterdam, The Netherlands
  3. 3Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  4. 4Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
  1. Correspondence to:
    Dr J J Keller
    Academic Medical Center, Department of Pathology, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;j.j.keller{at}amc.uva.nl

Abstract

Background: Peutz–Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis syndrome of the gastrointestinal tract, caused by a germline STK11/LKB1 mutation. Nasal polyposis was described in the original report by Peutz. Recently, a molecular–genetic association between nasal polyposis and PJS has been reported.

Objective: To further explore the occurrence and pathogenesis of PJS-related nasal polyposis.

Methods: 51 patients with PJS, 84 unaffected family members and 36 spouses from 18 families with PJS were questioned for the presence of nasal polyposis. 12 PJS-related nasal polyps, 1 carcinoma of the nasal cavity and 28 sporadic nasal polyps were analysed for loss of (wild type) STK11/LKB1, eosinophilia, squamous metaplasia, dysplasia and expression of cyclo-oxygenase 2 and p53.

Results: Nasal polyps occurred in 8 of 51 patients with PJS, and were not reported by non-affected family members (p<0.001). Germline STK11/LKB1 mutations were identified in all patients with PJS and nasal polyposis. Loss of heterozygosity was found in four of eight PJS-related nasal polyps, but not in sporadic nasal polyps (p = 0.002). PJS-related nasal polyps showed less eosinophilia than sporadic nasal polyps (p<0.001). Expression of cyclo-oxygenase 2 was found in 11 of 12 PJS-related nasal polyps and 19 of 28 sporadic nasal polyps (p>0.05). Overexpression of p53 was not found.

Conclusions: Nasal polyposis occurs in a significant number of Dutch patients with PJS, one of whom developed a carcinoma in the nasal cavity. The loss of heterozygosity, and the absence of eosinophilia suggest a distinct pathogenesis compared with sporadic nasal polyposis.

  • COX, cyclo-oxygenase
  • LOH, loss of heterozygosity
  • PJS, Peutz–Jeghers syndrome

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Footnotes

  • Published Online First 14 June 2006

  • Competing interests: None declared.

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