Recurrent vertebral venous malformation with PIK3CA mutation: overcoming surgical challenges with alpelisib - a case report

A 43-year-old man presented with acute spinal cord compression caused by an expansile venous mass arising within the T8 vertebral body. Despite three surgical resections, the lesion recurred rapidly, and the patient progressively developed severe neurological deficits. Molecular analysis revealed a PIK3CA p.Glu542Lys mutation, previously unreported at this anatomical location, although the precise diagnosis remained uncertain. We report the first case of a PIK3CA-mutated vertebral hemangioma/venous malformation treated with alpelisib, a PI3K inhibitor, resulting in sustained neurological and radiological remission without adverse events. Molecular profiling can uncover actionable targets in surgically challenging spinal vascular lesions, sparing patients repeated high-risk surgery.