PIK3CA gene mutations (PI3K/AKT/mTOR pathway) are associated with lymphatic malformations, venous malformations, and PIK3CA-related overgrowth syndromes, such as CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities) and Klippel-Trenaunay (a combination of capillary malformation, venous and/or lymphatic malformation, and disturbed growth of bone or soft tissue). This evidence concerns the gene PIK3CA and lymphatic malformation.