PIK3CA相关性过度生长疾病的诊疗现状  

Views on the Current Diagnosis and Treatment of PIK3CA⁃Related Overgrowth Spectrum

作　　者：孙丽颖 郭阳 田文 SUN Liying;GUO Yang;TIAN Wen(Department of Hand Surgery,Clinical and Research Center for Congenital Hand Deformities and Rare Diseases,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China)

机构地区：[1]首都医科大学附属北京积水潭医院手外科,先天性手部畸形及罕见病诊疗中心,北京100035

出　　处：《罕见病研究》2023年第4期492-500,共9页Journal of Rare Diseases

基　　金：北京市属医院科研培育项目(PX2022013)。

摘　　要：PIK3CA相关性过度生长疾病(PROS)是体细胞PIK3CA基因嵌合突变导致的一系列非对称、不成比例的头部、躯干、腹腔脏器或肢体的过度生长性疾病。PROS对患者的外观、躯体功能及心理造成严重影响,也给家庭和社会带来严重的经济负担。外科手术及介入治疗等传统治疗方法对畸形和功能改善作用较为有限,过度生长严重者,仅以对症支持治疗为主,多学科协助诊疗模式尤为重要。近年来,基因检测已成为诊断PROS的金标准,靶向治疗也为重度的PROS患者带来希望。但对于基因检测阴性,仅能临床诊断的PROS患者,能否采用靶向治疗尚未形成共识。对PIK3CA基因低嵌合突变的检测方法还需进一步研究。本文就PROS的疾病谱、临床表现、诊断方法及治疗现状进行梳理和探讨,以期提高对该类罕见疾病的认识及诊疗水平。PIK3CA-related overgrowth spectrum(PROS)is a rare condition characterized by dispropor-tionate overgrowth of head,neck,trunk,or extremity,caused by PIK3CA gene mutation.This condition has negative impact on the physical appearance,functions,and psychosocial well-being of the patients.The condi-tion causes social and economic burden,too.The gold standard for the diagnosis of PROS is the genetic testing using somatic tissue,but detecting low-level mosaic mutations of PIK3CA gene remains a challenge.There is no specific treatment now.Supportive management including surgery and other interventions have limited effects in improving cosmetic outcome and functions.Multidisciplinary collaboration is the key to the success of managing PROS.Targeted gene therapy is promising in improving the outcome for patients with severe PROS.Patients di-agnosed with negative genetics test by the clinical measures are often ineligible for novel gene therapy.This arti-cle reviews the clinical manifestations,diagnosis,and treatments of PROS,aiming to improve the current un-derstanding of this rare condition.

关 键 词：PIK3CA相关性过度生长疾病 PIK3CA基因 诊断 手术 靶向治疗 

分 类 号：R682.1[医药卫生—骨科学]