Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor suppressor gene located on chromosome 10q22-23 that negatively regulates the pro-survival PI3K/Akt/mTOR pathway by functioning as a lipid phosphatase. Signaling through this pathway promotes cellular transformation and survival as well as resistance to chemotherapy and radiation. Loss of PTEN function is commonly observed in human cancers through somatic mutation, hypermethylation, and/or enhanced degradation. PTEN hamartomatous tumor syndromes (PHTS) are a collection of rare clinical syndromes marked by germline PTEN loss. Compared to the general population, PHTS patients have an increased risk of developing certain cancers and can develop benign tumors in virtually any organ. These patients provide a unique opportunity to examine the role of PTEN in human tumorigenesis, as well as study genotype-phenotype relationships. Because these patients are at higher risk of developing malignancies and have no established medical therapies, early screening, surveillance, and preventive care are important issues. Inhibitors of the PI3K/Akt/mTOR pathway that are being developed as cancer therapeutics could provide new therapeutic options for these rare patients, and could be credentialed as pathway inhibitors prior to testing in the general oncology population.
- Cowden syndrome
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