Embryological cellular origins and hypoxia-mediated mechanisms in PIK3CA-driven refractory vascular malformations.

ABSTRACT: Congenital vascular malformations, affecting 0.5% of the population, often occur in the head and neck, complicating treatment due to the critical functions in these regions. Our previous research identified distinct developmental origins for blood and lymphatic vessels in these areas, tracing them to the cardiopharyngeal mesoderm (CPM), which contributes to the development of the head, neck, and cardiovascular system in both mouse and human embryos. In this study, we investigated the pathogenesis of these malformations by expressing Pik3ca^H1047R in the CPM. Mice expressing Pik3ca^H1047R in the CPM developed vascular abnormalities restricted to the head and neck. Single-cell RNA sequencing revealed that Pik3ca^H1047R upregulates Vegf-a expression in endothelia

SUBMITTER: Torii S 

PROVIDER: S-EPMC12162881 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature