Peutz-Jeghers syndrome

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Last staff update: 5 February 2021

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PubMed Search: Peutz-Jeghers syndrome[TI] colon "full text"[SB]

Michael Feely, D.O.
Raul S. Gonzalez, M.D.
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Cite this page: Feely M, Gonzalez RS. Peutz-Jeghers syndrome. website. Accessed April 14th, 2024.
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 Peutz-Jeghers polyps with a family history of Peutz-Jeghers syndrome; or (c) characteristic prominent mucocutaneous pigmentation with a family history of Peutz-Jeghers syndrome; 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:
  • 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)
Clinical features
  • Mucocutaneous pigmented lesions are common and may be the first clue to an individual having Peutz-Jeghers syndrome; however, this pigmentation may fade over time
  • Presenting symptoms commonly include GI bleeding, abdominal pain or intussusception
Case reports
  • 43 year old man with Peutz-Jeghers syndrome, intussusception and malignant transformation of polyps (Oncol Lett 2015;10:1008)
  • 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. and Christopher Hartley, M.D.

Colonic Peutz-Jeghers polyps

Duodenal Peutz-Jeghers polyps

Peutz-Jeghers polyp

Differential diagnosis
Board review style question #1
Which of the following is true about Peutz-Jeghers syndrome?

  1. 1 Peutz-Jeghers polyp alone meets criteria to diagnose a patient with the syndrome
  2. Patients have essentially a 100% risk of developing malignancy
  3. Patients may develop mucocutaneous pigmentation
  4. Peutz-Jeghers polyps are most common in the colon
Board review style answer #1
C. Patients may develop mucocutaneous pigmentation

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Reference: Peutz-Jeghers syndrome
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