- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Peutz-Jeghers syndrome

Peutz-Jeghers syndrome


Monday 8 December 2003

Definition: Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits, multiple gastrointestinal hamartomatous polyps, and an increased risk of various neoplasms.


- hyperpigmented macules of lips and buccal mucosa
- clubbing of fingers
- hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips
-  ovarian cysts

- hamartomatous polyps

  • digestive Peutz-Jeghers polyposis
    • gastrointestinal hamartomatous polyps (stomach to rectum)
    • multiple Peutz-Jeghers polyps
  • nasal polyps
  • bronchial polyps
  • biliary tract polyps
  • ureteral polyps
  • bladder polyps

- digestive tumors (2%-20%)

  • digestive adenocarcinomas

- non-digestive tumors (relative risk x15.2)

  • astrointestinal carcinoma
  • breast carcinoma (ductal)
  • thyroid carcinoma
  • lung carcinoma
  • pancreatic carcinoma
  • uterine carcinoma
  • Sertoli cell testicular tumor
  • ovarian sex cord tumors with annular tubules (SCTAT)
  • biliary vesical carcinoma (gallbladder carcinoma)
  • bronchial adenoma
  • biliary hamartoma


- Locus 19q13.3: germline mutations mutations in the serine/threonine kinase STK11 gene (or LKB1 gene) (MIM.602216)
- Locus 19q13.4 (15287029)


- Carling D. LKB1: a sweet side to Peutz-Jeghers syndrome? Trends Mol Med. 2006 Apr;12(4):144-7. PMID: 16530014