AUTHOR=Xu Jing , Liu Mengyao , Yuan Hongtu , Liu Zengjun , Zhu Dongyuan 

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.792466

DOI=10.3389/fgene.2022.792466

ISSN=1664-8021

ABSTRACT=<p>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 <ext-link ext-link-type="uri" xlink:href="http://www.ncbi.nlm.nih.gov/pubmed/30653256" xmlns:xlink="http://www.w3.org/1999/xlink">combined</ext-link> 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.</p>