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Etiology and Genetics of Congenital Vascular Lesions

Angela Queisser1, Laurence M Boon2, Miikka Vikkula1

  • 1Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), Brussels B-1200, Belgium.

Otolaryngologic Clinics of North America
|December 9, 2017
PubMed

Insights

Genetic mutations drive vascular tumors and malformations by activating cancer-related signaling pathways. This discovery supports repurposing cancer drugs for treating these conditions.

Area of Science:

  • Vascular biology
  • Oncology
  • Genetics

Background:

  • Vascular tumors and malformations are complex conditions.
  • Their underlying pathophysiology was not fully understood.
  • Genetic mutations are increasingly recognized as key factors.

Purpose of the Study:

  • To elucidate the genetic basis of vascular tumors and malformations.
  • To identify the signaling pathways involved.
  • To explore therapeutic repurposing strategies.

Main Methods:

  • Detection of somatic, activating genetic mutations.
  • Analysis of affected signaling pathways (RAS/MAPK/ERK and PI3K/AKT/mTOR).

Main Results:

  • Identified specific somatic mutations driving disease development.
  • Demonstrated activation of RAS/MAPK/ERK and/or PI3K/AKT/mTOR pathways.
  • Established a link between these pathways and vascular anomalies.

Conclusions:

  • Somatic mutations in key genes underpin vascular tumor and malformation development.
  • These mutations activate critical cancer-associated signaling cascades.
  • Repurposing cancer therapeutics is a promising strategy for these conditions.
Keywords:
GeneInhibitorMalformationMutationRapamycinSignaling pathwayVascular

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