Managing facial infiltrating lipomatosis associated with PIK3CA mutation:From surgery to targeted therapy  

作　　者：Hongrui Chen Bin Sun Wei Gao Chen Hua Xiaoxi Lin 

机构地区：[1]Department of Plastic and Reconstructive Surgery,Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China

出　　处：《Chinese Journal of Plastic and Reconstructive Surgery》2023年第1期25-29,共5页

基　　金：supported by the Major and Key Cultivation Projects of Shanghai Ninth People’s Hospital, Shanghai Jiao Tong university School of Medicine (grant no. JYZP005);Project of Biobank from Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine (grant no. YBKA202209);Rare Disease Registration Platform of Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine (grant no. JYHJB02)

摘　　要：Facial infiltrating lipomatosis(FIL)is a congenital asymmetrical deformity of the maxillofacial region that can significantly affect a patient’s facial appearance and function.With the development of sequencing technologies,PIK3CA mutations are considered among the potential etiologies of FIL.The management and treatment of FIL involves plastic surgery;more recently,an improved understanding of its pathogenesis has given rise to new treatment options,including targeted therapy.Here we report the clinical data of two patients diagnosed with FIL and present current curative concepts.

关 键 词：Facial infiltrating lipomatosis PIK3CA mutations SURGERY Targeted therapy 

分 类 号：R739.5[医药卫生—肿瘤]