Hamartomatous polyposis syndromes

Best Pract Res Clin Gastroenterol. 2009;23(2):219-31. doi: 10.1016/j.bpg.2009.02.007.


Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis are necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumour syndrome, and juvenile polyposis will be presented in this review.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Gene Expression Regulation, Neoplastic*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / genetics
  • Humans
  • Mutation*
  • Peutz-Jeghers Syndrome / diagnosis*
  • Peutz-Jeghers Syndrome / genetics
  • Phenotype
  • Predictive Value of Tests