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Vascular malformations: from genetics to therapeutics.

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Genetic insights into vascular malformations (VMs) are revolutionizing treatment. Targeted therapies, like PI3K and MAPK inhibitors, show promise for improving outcomes in these congenital vascular disorders.

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Area of Science:

  • Vascular biology and genetics
  • Congenital disorders
  • Precision medicine

Background:

  • Vascular malformations (VMs) are congenital disorders of blood and lymphatic vessels.
  • Sporadic VMs often arise from post-zygotic variants in endothelial signaling pathways, including PI3K and MAPK.
  • These genetic underpinnings link VMs to cancer pathways, offering theragnostic potential.

Purpose of the Study:

  • To review the genetic basis of vascular malformations.
  • To summarize recent advances in targeted therapies for VMs.
  • To discuss future directions in precision medicine for VMs.

Main Methods:

  • Review of current literature on VM genetics and targeted therapies.
  • Analysis of genetic variants in phosphoinositide-3-kinase (PI3K) and mitogen-associated proliferation kinase (MAPK) pathways.
  • Examination of emerging therapeutic strategies, including novel inhibitors and gene therapy.

Main Results:

  • Targeted therapies like mTOR/PI3Kα inhibitors (sirolimus, alpelisib) show efficacy in slow-flow VMs.
  • MAPK inhibitors (trametinib) are suggested for arteriovenous malformations.
  • Accurate genetic diagnosis and personalized treatment remain key challenges.

Conclusions:

  • Precision medicine is transforming VM treatment through genetic insights.
  • Targeted therapies offer improved efficacy and reduced toxicity.
  • Future approaches like mutant-selective inhibitors and gene therapy promise enhanced specificity.