PTENopathy: A review on pathology, mechanisms, and treatment strategies

Abstract

PTENopathy refers to a class of uncommon genetic disorders brought on by changes or mutations in the phosphatase and tensin homologue (PTEN) gene. A wide range of clinical characteristics, such as an elevated risk of tumor growth, neurodevelopmental problems, macrocephaly, and other specific phenotypes, are present in these disorders. As a tumor suppressor gene, PTEN is essential for controlling cellular functions such as cell proliferation, survival, and metabolism. This is accomplished by modifying the phosphatidylinositol-3-kinase/protein kinase B/mammalian target of rapamycin signaling pathway. Pathogenesis of PTENopathy is aided by dysregulation of this system brought on by PTEN gene mutations. The clinical range of PTENopathy encompasses overlapping disorders with various symptoms as well as distinct syndromes with different presentations, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus and Proteus-like syndrome. A thorough clinical evaluation, family history analysis, and genetic testing to uncover PTEN gene mutations or changes are all necessary for the diagnosis of PTENopathy. PTENopathy treatment plans focus on addressing the disease's distinctive symptoms and effects. This may entail ongoing monitoring for the emergence of cancers, their early discovery and treatment, as well as the surgical removal of tumors. The quality of life for people with PTENopathy can be greatly enhanced by symptom-specific interventions, such as therapies for neurodevelopmental disorders and psychological assistance. Accurate information, support for family planning choices, and facilitation of thorough treatment are all dependent on genetic counseling. Despite being an uncommon ailment, PTENopathy has become easier to identify and comprehend thanks to improvements in genetic testing and raised awareness. In this review, the definition of PTENopathy, the structure and function of the PTEN gene, conditions causing PTENopathy, signs and symptoms, associated cancer types and other diseases and disorders, treatment methods, and the worldwide prevalence of the disease will explained.

Cite this article as: Demirezen A, Erbaş O. PTENopathy: A review on pathology, mechanisms, and treatment strategies. D J Med Sci 2023;9(3):150-166. doi: 10.5606/fng. btd.2023.136.

All authors contributed equally to the article.

Data Sharing Statement:
The data that support the findings of this study are available from the corresponding author upon reasonable request.

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

The authors received no financial support for the research and/or authorship of this article.