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.

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum

Carli D.
First
;
Kalantari S.;Manicone R.;Coppo P.;La Selva R.;Santoro F.;Cardaropoli S.;Fagioli F.;Ferrero G. B.;Mussa A.
2021-01-01

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.
2021
100
5
624
627
Kaposiform hemangioendothelioma; mixed vascular-lymphatic malformations; PIK3CA; PIK3CA-related overgrowth spectrum; PROS
Carli D.; Kalantari S.; Manicone R.; Coppo P.; Francia di Celle P.; La Selva R.; Santoro F.; Ranieri C.; Cardaropoli S.; Fagioli F.; Ferrero G.B.; Resta N.; Mussa A.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1840044
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