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

ABSTRACT: 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.

SUBMITTER: Xu J 

PROVIDER: S-EPMC8831743 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature