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

Background

VMs are congenital vascular anomalies are often the result of genetic mutations. Advances in genetics have revealed that certain Venous malformations (VMs) share mutations with cancers, specifically in the PI3K/AKT/mTOR proliferative pathways. This discovery has paved the way for targeted treatments, similar to those used in oncology. We aim to explore differences between VMs and cancers, particularly in therapeutic and diagnostic approaches.

Material and methods

We performed a systematic review of literature, up to June 2024. Articles has been classified in 3 topics: Clinical advances and prospects; Genomic concern and proliferation pathway and Therapeutics and issues: neoadjuvant strategy, adjuvant strategy. The primary outcome was to make comparison between issues in oncology and VMs.

Discussion

We identified genetic implications as, in some hereditary cases of VMs, the "two-hit" mechanism involves both a germline and a somatic mutation in the same gene, resulting in loss of function and the manifestation of the malformation. Regarding the Therapeutic Strategies and Comparison with Oncology, adjuvant and neoadjuvant seem to be promising in VMs. Lastly, treatment acceptability is a key issue for VM patients: tolerance to the side effects of anticancer drugs used for VMs is a major concern.

Conclusion

Wile VMs and cancers share some proliferative pathways and therapeutic targets, they differ in their growth dynamics and impact on surrounding tissues. The management of VMs is increasingly approached as a “chronic disease,” similar to oncology, but the benefit-risk balance and quality of life remain specific concerns.