Concurrent PIK3CA and IDH1 variants in facial infiltrating lipomatosis with intracranial lesions  

作　　者：Hongrui Chen Bin Sun Lizhen Wang Lei Chanag Zhang Yu Wei Gao Yajing Qiu Hui Chen Chen Hua Xiaoxi Lin 

机构地区：[1]Department of Plastic&Reconstructive Surgery,Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China [2]Department of Oral Pathology,Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China

出　　处：《Genes & Diseases》2025年第2期79-82,共4页基因与疾病(英文)

基　　金：supported by the Major and Key Cultivation Projects of Ninth People's Hospital affiliated to Shanghai Jiao Tong University School of Medicine (China) (No.JYZP005);the Treatment and Mechanism of PI3K/mTOR Dual-target Inhibitor (WX390)on PIK3CA-related Overgrowth Spectrum (PROS) (China) (No.JYWO22075);Fundamental Research Funds for the Central Universities (China) (No.YG2023ZD13).

摘　　要：Facial infiltrating lipomatosis(FIL)is a congenital disorder caused by the hyperproliferation of adipose and skeletal tissue within the facial region.Infiltration of mature adipose tissue into adjacent structures is a hallmark pathologic finding.In addition to the aesthetic implications,patients may suffer from impaired facial function,including difficulty in swallowing and breathing,sleep disturbances,and visual field displacement.

关 键 词：PIK3CA infiltrating IMPAIRED 

分 类 号：R73[医药卫生—肿瘤]