PTEN hamartoma tumor syndromes.

Journal Article (Journal Article;Review)

The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome 10q22-23 and negatively regulates the prosurvival PI3K/Akt/mTOR pathway through its lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. Clinical management of patients with PHTS, particularly those with CS, should include early and frequent screening, surveillance, and preventive care for associated malignancies. Concomitant with improved understanding of the biology of PTEN and the PI3K/Akt/mTOR pathway, inhibitors of this pathway are being developed as anticancer agents. These medications could have applications for patients with PHTS, for whom no medical options currently exist.

Full Text

Duke Authors

Cited Authors

  • Blumenthal, GM; Dennis, PA

Published Date

  • November 2008

Published In

Volume / Issue

  • 16 / 11

Start / End Page

  • 1289 - 1300

PubMed ID

  • 18781191

Pubmed Central ID

  • PMC6939673

International Standard Serial Number (ISSN)

  • 1018-4813

Digital Object Identifier (DOI)

  • 10.1038/ejhg.2008.162


  • eng

Conference Location

  • England