TEK-related venous malformation of the orofacial region: report of a case with multidisciplinary treatment guided by molecular diagnosis.

Abstract

Vascular malformations (VMs) often affect the orofacial region, where they can markedly impact the quality of life. They frequently harbor mutations in TEK, PIK3CA, or other genes essential for angiogenesis. Alpelisib is a phosphatidylinositol 3-kinase inhibitor recently shown to be effective for treating VMs with PIK3CA or TEK mutations. Herein we describe a 13-year-old female with an orofacial VM present since birth. Based on clinical, histopathologic, and molecular findings, the final diagnosis was TEK-related venous malformation. She received multimodal therapy, consisting of sclerotherapy, surgical debulking, and systemic alpelisib. Ten months after surgery and 7 months after terminating systemic therapy, the buccal mucosal aspect of the lesion was barely apparent. Molecular diagnostics and targeted agents have ushered in a new era of precision medicine for VMs. It is important for pathologists and clinicians to be aware of molecular-guided therapy as delivered via a multidisciplinary team-based approach for optimal management of patients with VMs.