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Somatic Activating PIK3CA Mutations Cause Venous Malformation.

Nisha Limaye1, Jaakko Kangas2, Antonella Mendola1

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Somatic mutations in PIK3CA are a significant cause of venous malformations (VMs), activating AKT and leading to abnormal cell growth. A specific inhibitor shows promise in restoring normal cell function in both PIK3CA- and TEK-mutant VMs.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Vascular Biology

Background:

  • Somatic mutations in TEK (TIE2) are a known cause of sporadic venous malformations (VMs).
  • The genetic underpinnings of VMs without TEK mutations require further elucidation.

Purpose of the Study:

  • To identify the genetic cause of VMs in patients lacking TEK mutations.
  • To characterize the functional consequences of identified mutations in VMs.
  • To explore potential therapeutic targets for VM treatment.

Main Methods:

  • Somatic mutation analysis of the PIK3CA gene in VM patient samples.
  • Expression of mutant PIK3CA in human umbilical vein endothelial cells (HUVECs).
  • Assessment of AKT activation, angiogenic factor dysregulation, and endothelial cell morphology.
  • Inhibition studies using a PIK3CA-specific inhibitor (BYL719).

Main Results:

  • Somatic PIK3CA mutations were identified in 54% of VMs without TEK mutations.
  • Hotspot PIK3CA mutations (p.Glu542Lys, p.Glu545Lys, p.His1047Arg) were prevalent.
  • PIK3CA mutations led to chronic AKT activation and abnormal endothelial cell phenotypes.
  • BYL719 treatment rescued abnormal phenotypes in both PIK3CA- and TEK-mutant HUVECs.
  • Genotype-phenotype correlations were observed between PIK3CA and TEK mutations.

Conclusions:

  • PIK3CA mutations are a major driver of sporadic venous malformations.
  • PIK3CA and TEK mutations converge on common pathogenic pathways involving AKT.
  • Targeted inhibition of PIK3CA offers a potential therapeutic strategy for VMs.
  • Gene-specific effects contribute to variations in VM presentation.