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Peutz-Jeghers Polyps

Soike, Thomas MD; Holloman, David MD

doi: 10.1097/PCR.0b013e31828c3345
Case Reviews

Abstract: Peutz-Jeghers syndrome is a rare autosomal dominant syndrome associated with mucocutaneous pigmentation and hamartomatous gastrointestinal polyps. The syndrome is associated with increased risk for intestinal and extraintestinal malignancy. Peutz-Jeghers polyps have been found involving the stomach, small intestine, and colon. These polyps have a distinct arborizing pattern composed of smooth muscle derived from the muscularis mucosae with overlying nondysplastic epithelium. A subset of Peutz-Jeghers polyps demonstrate pseudoinvasion, which can lead to an improper diagnosis of malignancy. Properly identifying this mimicker of adenocarcinoma is essential for appropriate patient care. The variable clinical manifestations and diffuse location of Peutz-Jeghers polyps make proper identification and management challenging. This review addresses the history, pathology, clinical features, genetic abnormalities, and recommendations for surveillance and management.

From the Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC.

Reprints: David Holloman, MD, 165 Ashley Ave, Suite 309, Medical University of South Carolina, Charleston, SC 29425. E-mail: David.holloman@bmcjax.com.

The authors have no funding or conflicts to declare.

© 2013 Lippincott Williams & Wilkins, Inc.