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
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author Wang, Zuopeng
Yan, Hanlei
Ma, Yangyang
Yao, Wei
Zheng, Shan
Li, Kai
author_facet Wang, Zuopeng
Yan, Hanlei
Ma, Yangyang
Yao, Wei
Zheng, Shan
Li, Kai
author_sort Wang, Zuopeng
collection PubMed
description 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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spelling pubmed-102355942023-06-03 Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus Wang, Zuopeng Yan, Hanlei Ma, Yangyang Yao, Wei Zheng, Shan Li, Kai Front Oncol Oncology 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. Frontiers Media S.A. 2023-05-19 /pmc/articles/PMC10235594/ /pubmed/37274236 http://dx.doi.org/10.3389/fonc.2023.1132702 Text en Copyright © 2023 Wang, Yan, Ma, Yao, Zheng and Li https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Wang, Zuopeng
Yan, Hanlei
Ma, Yangyang
Yao, Wei
Zheng, Shan
Li, Kai
Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title_full Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title_fullStr Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title_full_unstemmed Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title_short Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus
title_sort case report: kaposiform hemangioendothelioma with pik3ca mutation successfully treated with sirolimus
topic Oncology
url 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
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