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Am J Med Genet C Semin Med Genet. 2013 May;163C(2):114-21. doi: 10.1002/ajmg.c.31364.

When overgrowth bumps into cancer: the PTEN-opathies.

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PTEN/Cowden Multidisciplinary Clinic, Cleveland Clinic, Cleveland, OH 44195, USA.


PTEN is a dual-specificity phosphatase and well-known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR and MAPK signaling, leading to cell death and growth regulation. PTEN mutations cause dysregulation of these pathways, resulting in cellular proliferation and overgrowth. When germline mutations are present as in patients with PTEN Hamartoma Tumor Syndrome (PHTS), benign and malignant neoplasias occur as well as cerebral overgrowth and neurodevelopmental abnormalities. This review article will summarize recent laboratory and clinical investigations relating to PTEN, highlighting the overgrowth aspects of this syndrome and the molecular drivers behind these key phenotypes. Finally, therapies developed targeted the PI3K/AKT/mTOR pathway for other tumor predisposition syndromes will be discussed.

[Indexed for MEDLINE]

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