When Overgrowth Bumps Into Cancer: The PTEN-Opathies
When Overgrowth Bumps Into Cancer: The PTEN-Opathies
复制标题
DOI：
10.1002/ajmg.c.31364
复制
发表时间：
2013-05-01
影响因子：
3.1
通讯作者：
Eng, Charis
中科院分区：
文献类型：
--
作者：
Mester, Jessica;Eng, Charis
PTEN是一种双特异性磷酸酶基因，也是众所周知的肿瘤抑制基因。当功能正常时，它以其典型的途径抑制AKT/mTOR和MAPK信号，导致细胞死亡和生长调节。PTEN突变导致这些通路的失调，导致细胞增殖和过度生长。当存在胚系突变时，就像PTEN错构瘤肿瘤综合征(PHTS)患者一样，会发生良性和恶性肿瘤，以及大脑过度生长和神经发育异常。这篇综述文章将总结最近与PTEN相关的实验室和临床研究，重点介绍这种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，针对PI3K/AKT/mTOR通路开发的针对其他肿瘤易感综合征的治疗方法将被讨论。(C)2013年威利期刊公司。
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. (c) 2013 Wiley Periodicals, Inc.