病例报告：一名患有Klippel-Trenaunay综合征患者的原发性胸膜血管肉瘤

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

Rare Tumors Department, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.

Department of Pathology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.

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

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.

克-特综合征（KTS）被证实是一种与镶嵌激活型PIK3CA突变相关的过度生长综合征。我们报告了首例患有KTS病史的17岁女性原发性胸膜血管肉瘤病例。联合靶向DNA和RNA测序显示肿瘤组织中PIK3CA存在激活突变。我们的病例提示了这两种不同的PIK3CA相关遗传病之间存在关联，甚至可能存在因果关系。