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

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...

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Detalles Bibliográficos
Autores principales: Wang, Zuopeng, Yan, Hanlei, Ma, Yangyang, Yao, Wei, Zheng, Shan, Li, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235594/
https://www.ncbi.nlm.nih.gov/pubmed/37274236
http://dx.doi.org/10.3389/fonc.2023.1132702
Descripción
Sumario: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.

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