Colon tumor
Familial polyposis syndromes
Peutz-Jeghers syndrome

Author: Michael Feely, D.O. (see Authors page)

Editorial Board Review: Raul S. Gonzalez, M.D.

Revised: 25 July 2016, last major update July 2016

Copyright: (c) 2003-2016,, Inc.

PubMed Search: Peutz-Jeghers syndrome
Cite this page: Peutz-Jeghers syndrome. website. Accessed October 24th, 2016.
Definition / General
  • Autosomal dominant polyposis syndrome with near complete penetrance characterized by hamartomatous gastrointestinal polyps and mucocutaneous melanin pigmentation
Essential Features
  • WHO diagnostic criteria: (a) three or more histologically confirmed Peutz-Jeghers polyps; or (b) any number of PJ polyps with a family history of PJ syndrome; or (c) characteristic prominent mucocutaneous pigmentation with a family history of PJS; or (d) any number of PJ polyps and characteristic prominent mucocutaneous pigmentation
  • Increased risk of GI and non-GI malignancies, with largest cohort putting the incidence at 23% (Clin Cancer Res 2006;12:3209)
  • Associated GI malignancies include colorectal, small bowel and pancreatic adenocarcinomas; non-GI tumors include sex cord tumor with annular tubules (SCTAT) of the ovary, adenoma malignum of the cervix, Sertoli cell tumor of the testis and breast carcinoma
  • Polyps found throughout the GI tract but most commonly encountered in the small bowel
  • Polyps also described in gallbladder, bladder and nasopharynx (Int J Colorectal Dis 2000;15:118)
  • Almost all cases are linked to a germline mutation in LKB1/STK11 at 19p13.3 (OMIM 175200)
  • Syndrome has high penetrance, with males and females equally affected (Nat Genet 1997;15:87)
Clinical Features
  • Mucocutaneous pigmented lesions are common and may be the first clue to an individual having PJS; however, this pigmentation may fade over time
  • Presenting symptoms commonly include GI bleeding, abdominal pain or intussusception
Case Reports
  • Following baseline colonoscopic examination and evaluation of the small bowel, patients should have repeat studies every 1-3 years, depending on previous findings (Gut 2010;59:975)
  • More frequent evaluation of the GI tract suggested after age 50, as most malignancies occur at that time
  • Surveillance thought to detect sizeable GI polyps which may cause intussusception / obstruction or bleeding and also detect early stage carcinomas
Clinical Images

Images hosted on other servers:

Multiple gastric polyps on endoscopy

Characteristic mucocutaneous pigmentation

Micro Description
  • Hamartomatous mucosal polyps with characteristic central core of branching smooth muscle associated with a mucosa native to site of origin
  • Smaller polyps, or those from the stomach and colon, may lack the prominent arborizing smooth muscle (Mod Pathol 2013;26:1235)
  • Epithelial misplacement is not uncommon and is likely secondary to prolapse changes
  • Dysplasia and adenocarcinoma can develop within polyps
Micro Images

Images hosted on Pathout server:

Contributed by: Michael Feely, D.O., University of Florida (USA)

Images hosted on other servers:

CT shows multiple masses
and intussusception

Differential Diagnosis