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Targeted Therapies for Slow-Flow Vascular Malformations.

ABSTRACT: Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in oncology has been increasingly investigated for treating vascular malformations. This review provides an update on the current evidence for targeted therapies in slow-flow vascular malformations, particularly in the context of gain-of-function variants in the PI3K/AKT/mTOR pathway.

SUBMITTER: Li GX 

PROVIDER: S-EPMC12062736 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature

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Targeted Therapies for Slow-Flow Vascular Malformations.

Li Grace X GX   Sebaratnam Deshan F DF   Pham James P JP  

The Australasian journal of dermatology 20250317 3

Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in oncology has been increasingly investigated for treating vascular malformations. This review provides an update on the current evidence for targeted therapi  ...[more]

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