Kaposiform hemangioendothelioma further broadens the phenotype of <scp>PIK3CA</scp> ‐related overgrowth spectrum
Diana Carli, Silvia Kalantari, Rosaria Manicone, Paola Coppo, Paola Francia di Celle, Roberta La Selva, Federica Santoro, Carlotta Ranieri, Simona Cardaropoli, Franca Fagioli, Giovanni Battista Ferrero, Nicoletta Resta, Alessandro Mussa
Abstract
Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive mixed vascular tumor, with typical onset in early childhood and characterized by progressive angio- and lymphangiogenesis. Its etiopathogenesis and molecular bases are still unclear. Here, we report the first case of congenital KHE harboring a PIK3CA mosaic pathogenic variant (c.323G > A, p.Arg108His) in a boy with very subtle PIK3CA-related overgrowth spectrum (PROS) features. This finding provides insights into the pathophysiology of KHE, offering targeted therapeutic options by inhibition of the PI3K/Akt/mTOR pathway. We propose the inclusion of this mixed lymphatic and vascular anomaly within the PROS.