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Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus

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Kaposiform hemangioendothelioma (KHE) is an extremely rare, locally aggressive vascular neoplasm. The etiopathogenesis of KHE is still poorly understood. In the present study, we found a new mutation in KHE… Click to show full abstract

Kaposiform hemangioendothelioma (KHE) is an extremely rare, locally aggressive vascular neoplasm. The etiopathogenesis of KHE is still poorly understood. In the present study, we found a new mutation in KHE (c.685delA, p.Thr229fs). The KHE patient with the PIK3CA mutation showed complete regression after sirolimus treatment. We propose that the presence of the PIK3CA mutation in KHE may correlate with good response to sirolimus.

Keywords: hemangioendothelioma pik3ca; pik3ca mutation; case report; mutation; report kaposiform; kaposiform hemangioendothelioma

Journal Title: Frontiers in Oncology
Year Published: 2023

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