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<p><i>PTEN</i> hamartoma tumour syndrome (PHTS) is an inherited syndrome caused by germline loss of function of the phosphatase and tensin homologue (<i>PTEN</i>) tumour suppressor gene. This causes cancer predisposition and a range of other features including vascular anomalies and neurodevelopmental disorders, notably autism spectrum disorder (ASD). Emerging evidence indicates that PTEN is a central regulator of metabolism, and its loss produces profound changes in insulin– phosphatidylinositol 3-kinase (PI3K)–Akt–mechanistic target of rapamycin (mTOR) signalling, affecting glucose homeostasis, adiposity and energy balance. Paradoxically, individuals with PHTS may exhibit enhanced insulin sensitivity despite increased risk of obesity. The metabolic features of PHTS are not yet fully characterised but potentially influence cancer risk, development and progression of benign tumours and vascular anomalies, and ASD. Progressive weight gain is likely to increase the risk of heart failure, lower limb joint failure and sleep apnoea, and to exacerbate impaired mobility due to PHTS-related overgrowth or vascular anomalies. This review explores the role of PTEN in metabolic regulation and evaluates the potential use of established medicines for type 2 diabetes and obesity to treat cardiometabolic and other features of PHTS. Metabolic interventions are an unexplored potential therapeutic avenue that could be important for people with PHTS.</p> Graphical Abstract <p></p>

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Metabolism in PTEN hamartoma tumour syndrome

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月22日

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  • Phil Ambery,
  • Ralph Bågenholm,
  • Thomas Pepper,
  • Claire M. Barton,
  • Maria A. Whitehead,
  • Lewis H. Rodriguez,
  • Peter J. Greasley

摘要

PTEN hamartoma tumour syndrome (PHTS) is an inherited syndrome caused by germline loss of function of the phosphatase and tensin homologue (PTEN) tumour suppressor gene. This causes cancer predisposition and a range of other features including vascular anomalies and neurodevelopmental disorders, notably autism spectrum disorder (ASD). Emerging evidence indicates that PTEN is a central regulator of metabolism, and its loss produces profound changes in insulin– phosphatidylinositol 3-kinase (PI3K)–Akt–mechanistic target of rapamycin (mTOR) signalling, affecting glucose homeostasis, adiposity and energy balance. Paradoxically, individuals with PHTS may exhibit enhanced insulin sensitivity despite increased risk of obesity. The metabolic features of PHTS are not yet fully characterised but potentially influence cancer risk, development and progression of benign tumours and vascular anomalies, and ASD. Progressive weight gain is likely to increase the risk of heart failure, lower limb joint failure and sleep apnoea, and to exacerbate impaired mobility due to PHTS-related overgrowth or vascular anomalies. This review explores the role of PTEN in metabolic regulation and evaluates the potential use of established medicines for type 2 diabetes and obesity to treat cardiometabolic and other features of PHTS. Metabolic interventions are an unexplored potential therapeutic avenue that could be important for people with PHTS.

Graphical Abstract