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Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances

A Dompmartin1, J Méry de Montigny1, J M L'Orphelin1

  • 1Department of Dermatology, CHU Caen Normandy, Caen, France.

Presse Medicale (Paris, France : 1983)
|June 15, 2025
PubMed
Abstract

Insights

Venous malformations (VMs) share genetic pathways with cancers, enabling targeted therapies. However, differences in growth and patient tolerance to treatments necessitate individualized management strategies, balancing efficacy with quality of life.

Area of Science:

  • Vascular anomalies
  • Genetics
  • Oncology

Background:

  • Venous malformations (VMs) are congenital vascular anomalies often linked to genetic mutations.
  • Certain VMs share mutations in proliferative pathways (PI3K/AKT/mTOR) with cancers.
  • This genetic overlap suggests potential for targeted, oncology-inspired treatments.

Purpose of the Study:

  • To explore the distinctions between VMs and cancers.
  • To compare therapeutic and diagnostic strategies for VMs and cancers.
  • To highlight the unique challenges in VM management.

Main Methods:

  • Systematic literature review up to June 2024.
  • Classification of articles into clinical advances, genomic pathways, and therapeutics.
  • Primary outcome: Comparison of oncology and VM issues.

Main Results:

  • Identified the "two-hit" mechanism (germline and somatic mutation) in hereditary VMs.
  • Adjuvant and neoadjuvant strategies show promise for VM treatment.
  • Patient tolerance to anti-cancer drug side effects is a significant concern for VMs.

Conclusions:

  • VMs and cancers share proliferative pathways but differ in growth dynamics and tissue impact.
  • VM management is increasingly viewed as a chronic disease model, akin to oncology.
  • Benefit-risk balance and patient quality of life are critical considerations specific to VMs.
Keywords:
GeneticsISSVAOncologyTargeted drugsVenous malformations

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