Table_1_Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus.xlsx

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.

卡波西型血管内皮瘤（Kaposiform hemangioendothelioma, KHE）是一种极为罕见的局部侵袭性血管肿瘤。目前其病因发病机制仍未得到充分阐明。本研究在KHE中发现了一种新型突变（c.685delA, p.Thr229fs）。携带PIK3CA（phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha）突变的KHE患者在接受西罗莫司（sirolimus）治疗后实现了完全缓解。我们推测，KHE中PIK3CA突变的存在可能与西罗莫司治疗的良好应答相关。