Clarifying genotype-phenotype correlations to provide targeted therapies for Venous malformations

Katsutoshi Hirose, Satoru Toyosawa
Oral and Maxillofacial Pathology Graduate School of Dentistry

Venous malformations (VMs) are the most common vascular malformations. TEK and PIK3CA have been accepted as the causal genes of VMs. A research group led by Assis.Prof. Katsutoshi HIROSE and Prof. Satoru Toyosawa revealed significant genotype-phenotype correlations in VMs, indicating gene-specific effects. The clinicopathological features and mRNA expression patterns differ depending on the causal gene types. They also found that the PIK3CA (PI3K)/AKT/mTOR pathway is activated regardless of the causal gene types in VMs. This result may provide therapeutic evidence for the use of mTOR inhibitor sirolimus in VM treatment.
Detailed analysis of gene-specific effects in VMs may offer insights into the underlying molecular pathways and implications for targeted therapies.

The article, “Comprehensive phenotypic and genomic characterization of venous malformations”, was published in Human Pathology at DOI: https://doi.org/10.1038/s41598-024-53213-x