Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Peutz–Jeghers Syndrome

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4482-2

Synonyms

Definition

Peutz–Jeghers syndrome is an autosomal dominantly inherited disorder that is characterized by the combination of:
  1. 1.

    Lentiginosis, i.e., typical pigmented lesions.

     
  2. 2.

    Hamartomatous polyposis that occurs mainly in the small intestine but also in the colon and the stomach. Extraintestinal hamartomas are rare; possible localizations include the gallbladder, the urinary bladder, the heart, and the respiratory tract.

     
  3. 3.

    Increased risk for various types of cancer (e.g., pancreas, gastrointestinal tract, bilateral breast cancer, rare gynecological tumors).

     
The clinical diagnosis is considered established when either two or more hamartomas or at least one hamartoma together with pigment spots or one hamartoma and positive familial history are found (Fig. 1).

Keywords

Capsule Endoscopy Bilateral Breast Cancer Pigment Spot Intestinal Polyp Hamartomatous Polyp 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Giardiello FM, Trimbath JD (2006) Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4:408–415CrossRefPubMedGoogle Scholar
  2. Giardiello FM, Brensinger JD, Tersmette AC et al (2000) Very high risk of cancer in familial Peutz Jeghers syndrome. Gastroenterology 119:1447–1453CrossRefPubMedGoogle Scholar
  3. Katajisto P, Vallenius T, Vaatomeri K et al (2007) The LKB1 tumor suppressor kinase in human disease. Biochim Biophys Acta 1775:63–75PubMedGoogle Scholar
  4. McGarrity TJ, Amos C (2006) Peutz-Keghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci 63:2135–2144CrossRefPubMedGoogle Scholar
  5. Udd L, Katajisto P, Rossi DJ et al (2004) Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology 127(4):1030–1037CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Department of SurgeryKrankenhaus Maria HilfMönchengladbachGermany