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 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.

Automated summary

This study presents the first case of primary pleural angiosarcoma in a 17-year-old woman with a history of Klippel-Trenaunay syndrome, revealing an activating mutation in PIK3CA in the tumor tissue. The findings suggest an association and, perhaps, a causal link between these two different PIK3CA-related genetic diseases.