处理与PIK3CA突变相关的面部浸润性脂肪瘤病:从手术到靶向治疗

Hongrui Chen , Bin Sun , Wei Gao, Chen Hua, Xiaoxi Lin
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引用次数: 0

摘要

面部浸润性脂肪瘤病(FIL)是一种颌面部先天性不对称畸形,严重影响患者的面部外观和功能。随着测序技术的发展,PIK3CA突变被认为是FIL的潜在病因之一。FIL的管理和治疗包括整形手术;最近,对其发病机制的进一步了解已经产生了新的治疗选择,包括靶向治疗。在此,我们报告两名确诊为FIL的患者的临床资料和目前的治疗理念。
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Managing facial infiltrating lipomatosis associated with PIK3CA mutation: From surgery to targeted therapy

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.

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来源期刊
Chinese Journal of Plastic and Reconstructive Surgery
Chinese Journal of Plastic and Reconstructive Surgery Surgery, Otorhinolaryngology and Facial Plastic Surgery, Pathology and Medical Technology, Transplantation
CiteScore
0.40
自引率
0.00%
发文量
115
审稿时长
55 days
期刊最新文献
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