病例报告：西罗莫司成功治疗伴有PIK3CA突变的卡波西样血管内皮瘤。
Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus.
作者信息
Wang Zuopeng, Yan Hanlei, Ma Yangyang, Yao Wei, Zheng Shan, Li Kai
机构信息
Department of Pediatric Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Department of Pathology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
出版信息
Front Oncol. 2023 May 19;13:1132702. doi: 10.3389/fonc.2023.1132702. eCollection 2023.
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.
卡波西样血管内皮瘤（KHE）是一种极其罕见的、具有局部侵袭性的血管肿瘤。KHE的病因发病机制仍知之甚少。在本研究中，我们在KHE中发现了一种新的突变（c.685delA，p.Thr229fs）。携带PIK3CA突变的KHE患者在西罗莫司治疗后完全缓解。我们提出，KHE中PIK3CA突变的存在可能与对西罗莫司的良好反应相关。
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