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. © 2013 Wiley Periodicals, Inc.

中文翻译：

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当过度生长导致癌症时：PTEN病

PTEN是双重特异性磷酸酶和众所周知的抑癌基因。当功能正常时，它会以其正常途径抑制AKT / mTOR和MAPK信号传导，从而导致细胞死亡和生长调节。PTEN突变引起这些途径的失调，导致细胞增殖和过度生长。当PTEN血管瘤肿瘤综合征（PHTS）患者出现种系突变时，会发生良性和恶性肿瘤，以及脑过度生长和神经发育异常。这篇综述文章将总结与PTEN相关的近期实验室和临床研究，强调了该综合征的过度生长方面以及这些关键表型背后的分子驱动因素。最后，将讨论针对其他肿瘤易感综合征针对PI3K / AKT / mTOR途径开发的疗法。©2013 Wiley Periodicals，Inc.