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

Jing Xu; Mengyao Liu; Hongtu Yuan; Zengjun Liu; Dongyuan Zhu

doi:10.3389/fgene.2022.792466

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

Front Genet. 2022 Jan 28:13:792466. doi: 10.3389/fgene.2022.792466. eCollection 2022.

Authors

Jing Xu¹, Mengyao Liu¹, Hongtu Yuan², Zengjun Liu^{1

3}, Dongyuan Zhu¹

Affiliations

¹ Rare Tumors Department, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
² Department of Pathology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
³ Tumor Research and Therapy Center, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

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.

Keywords: PIK3CA; angiosarcoma; klippel-trenaunay syndrome; pleura; somatic mutations.

Publication types

Case Reports