Colon
Polyps
Peutz-Jeghers syndrome
Authors: Michael Feely, D.O., Raul S. Gonzalez, M.D.
Topic Completed: 1 July 2016
Minor changes: 1 October 2020
Copyright: 2003-2021, PathologyOutlines.com, Inc.
PubMed Search: Peutz-Jeghers syndrome
Table of Contents
Definition / general | Essential features | Sites | Pathophysiology | Clinical features | Case reports | Treatment | Clinical images | Microscopic (histologic) description | Microscopic (histologic) images | Differential diagnosisCite this page: Feely M, Gonzalez R. Peutz-Jeghers syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorPeutz.html. 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
Sites
- 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)
Pathophysiology
- 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
- 43 year old man with PJS, intussusception and malignant transformation of polyps (Oncol Lett 2015;10:1008)
Treatment
- 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
- Sporadic Peutz-Jeghers polyps are histologically identical, although they are exceedingly rare, if they exist at all (Am J Surg Pathol 2007;31:1209)
- Juvenile polyps in the stomach may resemble gastric PJ polyps (Am J Surg Pathol 2010;34:1656)
