Peutz-Jeghers syndrome

Topic Completed: 1 July 2016

Minor changes: 1 October 2020

Copyright: 2003-2021,, Inc.

PubMed Search: Peutz-Jeghers syndrome

Michael Feely, D.O.
Raul S. Gonzalez, M.D.
Page views in 2020: 5,717
Page views in 2021 to date: 372
Cite this page: Feely M, Gonzalez R. Peutz-Jeghers syndrome. website. Accessed January 24th, 2021.
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

Microscopic (histologic) 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
Microscopic (histologic) images

Contributed by Michael Feely, D.O.

Various images

Contributed by Christopher Hartley, M.D.

Peutz-Jeghers polyp

Differential diagnosis
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