Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome (KTS) was demonstrated as a mosaic activating PIK3CA mutations related overgrowth syndrome. We present the first case of primary pleural angiosarcoma in a 17-year-old woman with a history of KTS. The combined targeted DNA and RNA sequencing revealed an activating mutation...

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Autores principales: Xu, Jing, Liu, Mengyao, Yuan, Hongtu, Liu, Zengjun, Zhu, Dongyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831743/
https://www.ncbi.nlm.nih.gov/pubmed/35154272
http://dx.doi.org/10.3389/fgene.2022.792466
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author Xu, Jing
Liu, Mengyao
Yuan, Hongtu
Liu, Zengjun
Zhu, Dongyuan
author_facet Xu, Jing
Liu, Mengyao
Yuan, Hongtu
Liu, Zengjun
Zhu, Dongyuan
author_sort Xu, Jing
collection PubMed
description Klippel-Trenaunay syndrome (KTS) was demonstrated as a mosaic activating PIK3CA mutations related overgrowth syndrome. We present the first case of primary pleural angiosarcoma in a 17-year-old woman with a history of KTS. The combined targeted DNA and RNA sequencing revealed an activating mutation in PIK3CA in the tumor tissue. Our case suggested an association and perhaps a causal link between the two different PIK3CA-related genetic diseases.
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spelling pubmed-88317432022-02-12 Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome Xu, Jing Liu, Mengyao Yuan, Hongtu Liu, Zengjun Zhu, Dongyuan Front Genet Genetics Klippel-Trenaunay syndrome (KTS) was demonstrated as a mosaic activating PIK3CA mutations related overgrowth syndrome. We present the first case of primary pleural angiosarcoma in a 17-year-old woman with a history of KTS. The combined targeted DNA and RNA sequencing revealed an activating mutation in PIK3CA in the tumor tissue. Our case suggested an association and perhaps a causal link between the two different PIK3CA-related genetic diseases. Frontiers Media S.A. 2022-01-28 /pmc/articles/PMC8831743/ /pubmed/35154272 http://dx.doi.org/10.3389/fgene.2022.792466 Text en Copyright © 2022 Xu, Liu, Yuan, Liu and Zhu. 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 Genetics
Xu, Jing
Liu, Mengyao
Yuan, Hongtu
Liu, Zengjun
Zhu, Dongyuan
Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title_full Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title_fullStr Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title_full_unstemmed Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title_short Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
title_sort case report: primary pleural angiosarcoma in a patient with klippel-trenaunay syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831743/
https://www.ncbi.nlm.nih.gov/pubmed/35154272
http://dx.doi.org/10.3389/fgene.2022.792466
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