Home > D. General pathology > Genetic and developmental anomalies > Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
MIM.175200
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.
Synopsis
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
Etiology
Locus 19q13.3: germline mutations mutations in the serine/threonine kinase STK11 gene (or LKB1 gene) (MIM.602216)
Locus 19q13.4 (15287029)
References
Carling D. LKB1: a sweet side to Peutz-Jeghers syndrome? Trends Mol Med. 2006 Apr;12(4):144-7. PMID: 16530014
