PTEN is a tumor suppressor gene that classically dampens the PI3K/AKT/mTOR growth-promoting signaling cascade. PTEN dysfunction causes dysregulation of this and other pathways, resulting in overgrowth. Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. Since then, significant advances by the research and medical communities have elucidated how clinical phenotypic manifestations result from the underlying germline PTEN mutations. With time, it became evident that PTEN mutations can result in a broad phenotypic spectrum, causing seemingly disparate disorders from cancer to autism. Hence, the umbrella term of PTEN hamartoma tumor syndrome (PHTS) was coined. Timely diagnosis and understanding the natural history of PHTS are vital because early recognition enables gene-informed management, particularly as related to high-risk cancer surveillance and addressing the neurodevelopmental symptoms.

中文翻译：

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PTEN突变的临床范围。

PTEN是一种抑癌基因，通常会抑制PI3K / AKT / mTOR促进生长的信号级联反应。PTEN功能障碍会导致该途径和其他途径的调节异常，从而导致过度生长。Cowden综合征是一种遗传性癌症易感性和过度生长疾病，是与种系PTEN突变相关的第一种孟德尔疾病。从那时起，研究和医学界取得了重大进展，阐明了潜在的种系PTEN突变如何导致临床表型表现。随着时间的流逝，很明显，PTEN突变会产生广泛的表型谱，从而导致从癌症到自闭症的看似完全不同的疾病。因此，创造了PTEN错构瘤肿瘤综合症（PHTS）的总称。