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Peutz-Jeghers syndrome: Screening and management

Authors
Daniel C Chung, MD
Tomer Adar, MD
Section Editors
J Thomas Lamont, MD
Barbara Goff, MD
Deputy Editor
Shilpa Grover, MD, MPH

INTRODUCTION

Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and an increased risk of gastrointestinal and extraintestinal cancer. Although polyps most commonly occur in the small bowel, they can be found throughout the gastrointestinal tract, including the stomach and colon.

This topic will review the management of PJS. The clinical manifestations and diagnosis of PJS and other familial hamartomatous polyposis syndromes and adenomatous polyposis syndromes of the gastrointestinal tract are discussed in detail, separately [1]. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis" and "Juvenile polyposis syndrome" and "PTEN hamartoma tumor syndrome, including Cowden syndrome" and "Clinical manifestations and diagnosis of familial adenomatous polyposis" and "Familial adenomatous polyposis: Screening and management of patients and families" and "MUTYH-associated polyposis".)

MANAGEMENT OF PEUTZ-JEGHERS SYNDROME

Guidelines for cancer screening in individuals with Peutz-Jeghers syndrome (PJS) have been proposed by several groups and are largely based on expert opinion and limited observational data [2-5]. Our recommendations are largely consistent with the guidelines issued by the American College of Gastroenterology (ACG) and the National Comprehensive Cancer Network (NCCN) [5,6].

Routine management — Individuals with PJS should undergo an annual physical examination with a complete blood count to detect iron deficiency anemia due to occult bleeding from gastrointestinal tract polyps or cancer. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis", section on 'Hamartomatous polyps' and "Causes and diagnosis of iron deficiency and iron deficiency anemia in adults", section on 'Causes of iron deficiency'.)

Cancer screening — Individuals with PJS are at an increased risk of gastrointestinal and extraintestinal cancer. The lifetime risk of cancer ranges between 37 and 93 percent, with an average age of 42 years at cancer diagnosis [4]. The most common sites of gastrointestinal tract malignancy are the colon and pancreas, and the most common site of extraintestinal tract cancer is the breast. (See "Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis", section on 'Clinical manifestations'.)

               

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Literature review current through: Nov 2016. | This topic last updated: Mon Dec 21 00:00:00 GMT+00:00 2015.
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