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World J Gastroenterol. Aug 21, 2014; 20(31): 10864-10875
Published online Aug 21, 2014. doi: 10.3748/wjg.v20.i31.10864
Update on imaging of Peutz-Jeghers syndrome
Catherine Tomas, Philippe Soyer, Anthony Dohan, Xavier Dray, Mourad Boudiaf, Christine Hoeffel
Catherine Tomas, Christine Hoeffel, Department of Radiology, Hôpital Robert Debré, 51092 Reims Cedex, France
Philippe Soyer, Anthony Dohan, Mourad Boudiaf, Department of Abdominal Imaging, Hôpital Lariboisière-AP-HP and Université Diderot Paris 7, 75475 Paris Cedex 10, France
Xavier Dray, Department of Digestive Diseases, Hôpital Lariboisière-AP-HP and Université Diderot-Paris 7, 75475 Paris Cedex 10, France
Author contributions: Guarantors of integrity of entire study by Tomas C and Hoeffel C; Study concepts/study design by Tomas C, Soyer P and Hoeffel C; Data acquisition or data analysis/interpretation by Tomas C, Hoeffel C, Soyer P, Dohan A, Dray X and Boudiaf M; all authors drafting or manuscript revision for important intellectual content, manuscript final version approval; Literature research by Tomas C, Soyer P and Hoeffel C.
Correspondence to: Catherine Tomas, MD, Department of Radiology, Hôpital Robert Debré, 11 Boulevard Pasteur, 51092 Reims Cedex, France. catherine.tomas@hotmail.fr
Telephone: +33-326784216 Fax: +33-3-267884 77
Received: October 30, 2013
Revised: April 3, 2014
Accepted: May 19, 2014
Published online: August 21, 2014
Abstract

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients affected by PJS have an increased risk of developing gastrointestinal and extra-digestive cancer. Malignancy most commonly occurs in the small-bowel. Extra-intestinal malignancies are mostly breast cancer and gynecological tumors or, to a lesser extent, pancreatic cancer. These polyps are also at risk of acute gastrointestinal bleeding, intussusception and bowel obstruction. Recent guidelines recommend regular small-bowel surveillance to reduce these risks associated with PJS. Small-bowel surveillance allows for the detection of large polyps and the further referral of selected PJS patients for endoscopic enteroscopy or surgery. Video capsule endoscopy, double balloon pushed enteroscopy, multidetector computed tomography and magnetic resonance enteroclysis or enterography, all of which are relatively new techniques, have an important role in the management of patients suffering from PJS. This review illustrates the pathological, clinical and imaging features of small-bowel abnormalities as well as the role and performance of the most recent imaging modalities for the detection and follow-up of PJS patients.

Keywords: Peutz-Jeghers syndrome, Small-bowel disease, Small bowel polyps, Intussusception, Double balloon enteroscopy, Video capsule endoscopy, Abdomen, Magnetic resonance, Abdomen, Computed tomography

Core tip: Peutz-Jeghers syndrome is a rare disease characterized by the development of hamartomatous polyps in the gastrointestinal tract. Patients affected by this syndrome have an increased risk of developing gastrointestinal and extradigestive cancers. Regular small-bowel surveillance is necessary to mitigate this increased risk, and recently developed techniques have an important role in the management of Peutz-Jeghers syndrome. This review illustrates the pathological, clinical and imaging features of small-bowel abnormalities as well as the role and performance of the most recent imaging modalities in the detection and monitoring of small-bowel abnormalities in PJS patients.