Clinical Gastroenterology and Hepatology
Volume 4, Issue 4 , Pages 408-415, April 2006

Peutz-Jeghers Syndrome and Management Recommendations

  • Francis M. Giardiello

      Affiliations

    • Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    • Oncology Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    • Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    • Corresponding Author InformationAddress requests for reprints to: Francis M. Giardiello, MD, The Johns Hopkins Hospital, 1830 E Monument Street, Room 431, Baltimore, Maryland 21205
    • ,
  • Jill D. Trimbath

      Affiliations

    • Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

published online 07 February 2006.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review analyzes currently available literature and describes the clinical characteristics of PJS, assesses the risk of malignancy in this disorder, and delineates management and surveillance recommendations for affected individuals.

Abbreviations used in this paper:  CLs, confidence limits , CT, computed tomography , MRI, magnetic resonance imaging , PJS, Peutz-Jeghers syndrome , STK, serine threonine kinase

 

 Supported in part by The John G. Rangos, Sr Charitable Foundation, The Clayton Fund, and NIH grant 5P50CA062924.

PII: S1542-3565(05)01093-1

doi:10.1016/j.cgh.2005.11.005

Clinical Gastroenterology and Hepatology
Volume 4, Issue 4 , Pages 408-415, April 2006