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Case Report: Primary Pleural Angiosarcoma in a Patient With Klippel-Trenaunay Syndrome
Jing Xu1, Mengyao Liu1, Hongtu Yuan2
1Rare Tumors Department, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
Frontiers in Genetics
|February 14, 2022
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.
