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Review
. 2008 Nov;16(11):1289-300.
doi: 10.1038/ejhg.2008.162. Epub 2008 Sep 10.

PTEN hamartoma tumor syndromes

Gideon M Blumenthal  1 , Phillip A Dennis
Affiliations
Review

PTEN hamartoma tumor syndromes

Gideon M Blumenthal et al. Eur J Hum Genet. 2008 Nov.

Abstract

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.

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Conflict of interest statement

Conflict of interest

None declared.

Figures

Figure 1
Figure 1
Schematic representation of the PI3K/Akt/mTOR pathway.
Figure 2
Figure 2
Pathognomonic mucocutaneous features of Cowden syndrome (CS). (a) Trichilemmomas on the nape of the neck of a subject with CS. (b) Palmar keratoses in a subject with CS. (c) Perioral papillomatous papules (arrow head) and nasal polyposis. (d) Gastric hamartomas as seen by endoscopy in a subject with CS.
Figure 3
Figure 3
Diagnostic algorithm for Cowden syndrome.
See this image and copyright information in PMC

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MeSH terms