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Review
. 2006 Apr;4(4):408-15.
doi: 10.1016/j.cgh.2005.11.005.

Peutz-Jeghers syndrome and management recommendations

Francis M Giardiello  1 , Jill D Trimbath
Affiliations
Review

Peutz-Jeghers syndrome and management recommendations

Francis M Giardiello et al. Clin Gastroenterol Hepatol. 2006 Apr.

Abstract

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.

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