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PTEN-opathies: from biological insights to evidence-based precision medicine

Lamis Yehia1, Joanne Ngeow1,2,3,4, Charis Eng1,5,6,7

  • 1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

The Journal of Clinical Investigation
|January 8, 2019
PubMed

Insights

Mutations in the PTEN gene cause PTEN hamartoma tumor syndrome (PHTS) and related "PTEN-opathies," impacting tumor development and neurodevelopment. Understanding these conditions advances precision medicine for cancer and developmental disorders.

Area of Science:

  • Genetics and Molecular Biology
  • Oncology
  • Developmental Neuroscience

Background:

  • The tumor suppressor Phosphatase and Tensin homolog (PTEN) is a key negative regulator of the PI3K/AKT/mTOR signaling pathway.
  • Germline mutations in PTEN lead to PTEN hamartoma tumor syndrome (PHTS), characterized by diverse tumors and neurodevelopmental issues like autism spectrum disorder.
  • Syndromes with overlapping features, termed "PTEN-opathies," arise from mutations in genes downstream of PTEN within the PI3K/AKT/mTOR pathway.

Purpose of the Study:

  • To explore the molecular and cellular mechanisms underlying PTEN-opathies.
  • To enhance gene-informed cancer risk assessment and medical management strategies.
  • To highlight the role of PTEN-opathies as a model for precision medicine.

Main Methods:

  • Review of experimental models investigating PTEN pathway disruption.
  • Analysis of clinical data linking PTEN mutations to phenotypic manifestations.
  • Integration of genetic, cellular, and clinical insights.

Main Results:

  • PTEN pathway disruption influences a spectrum of clinical phenotypes, including neoplastic and neurodevelopmental disorders.
  • Experimental models elucidate the biological processes affected by PTEN mutations.
  • Understanding PTEN-opathies facilitates improved diagnostic and therapeutic approaches.

Conclusions:

  • PTEN-opathies exemplify the translation of basic research into clinical applications.
  • Insights from PTEN-opathies advance personalized medicine for cancer and rare genetic disorders.
  • This research underscores the importance of the PTEN pathway in both cancer suppression and normal development.

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