Journal of the Formosan Medical Association
Volume 109, Issue 5 , Pages 354-361, May 2010

Clinical and Genetic Analysis of Peutz-Jeghers Syndrome Patients in Taiwan

  • Meng-Tzu Weng

      Affiliations

    • Department of Internal Medicine, Far Eastern Memorial Hospital, Taipei, Taiwan
    • ,
  • Yen-Hsuan Ni

      Affiliations

    • Department of Pediatrics, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
    • ,
  • Yi-Nien Su

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
    • ,
  • Jau-Min Wong

      Affiliations

    • Department of Internal Medicine, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
    • ,
  • Shu-Chen Wei

      Affiliations

    • Department of Internal Medicine, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Shu-Chen Wei, Department of Internal Medicine, National Taiwan University Hospital and College of Medicine, 7 Chung-Shan South Road, Taipei, Taiwan

Received 20 April 2009; received in revised form 11 June 2009; accepted 22 July 2009.

Article Outline

Background/Purpose

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder that is characterized by intestinal hamartomatous polyps and mucocutaneous pigmentation. Recently, germline mutations in the LKB1 gene have been reported to underlie PJS. The gene that encodes this serine/threonine kinase is located at chromosome 19p13.3. The aim of this study was to investigate the clinical and genetic characteristics of PJS patients in Taiwan.

Methods

We searched the patient database of the National Taiwan University Hospital, a tertiary medical center in Taiwan, between January 1990 and November 2005. Patients' clinical information, demographic data, endoscopic pictures, and outcome were reviewed and analyzed. After obtaining informed consent, DNA and RNA were extracted from peripheral blood mononuclear cells and the LKB1 gene was sequenced.

Results

A total of 14 unrelated patients who fulfilled the diagnostic criteria of PJS were included, and seven of them had genetic analysis performed. Mucocutaneous pigmentation was the most frequent presentation. Hamartomas occur most commonly in the small intestine (86%). Frequent abdominal complications include intussusception and gastrointestinal bleeding. Four germline mutations were found (57.1%). Three resulted in stop codons at codon 60, 162 (novel mutation), and 308. The fourth mutation was a missense mutation at codon 239 (novel mutation).

Conclusion

Compared with other countries, PJS patients in Taiwan tended to have more extensive polyps in the gastrointestinal tract, with intussusception being the most common abdominal symptom. Mutations in the LKB1 gene were identified in 57% of the probands in Taiwan.

Key Words:  Peutz-Jeghers syndrome , Taiwan

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PII: S0929-6646(10)60063-0

doi:10.1016/S0929-6646(10)60063-0

Journal of the Formosan Medical Association
Volume 109, Issue 5 , Pages 354-361, May 2010

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