硬纤维瘤的分子发病机制和治疗进展  

Molecular pathogenesis of desmoid tumor and advances in its treatment

作　　者：吴宏宇 李卓宇 刘巍峰[1,2,3,4] Hongyu Wu;Zhuoyu Li;Weifeng Liu(Department of Orthopaedic Oncology Surgery,Beijing Jishuitan Hospital,Fourth Medical College of Peking University,Beijing 100035,China;Department of Orthopaedic Oncology Surgery,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China;National Center for Orthopedics,Beijing 100035,China;Beijing Jishuitan Orthopaedic Robot Engineering Research Center Co.LTD,Beijing 100035,China)

机构地区：[1]北京大学第四临床医学院骨肿瘤科,北京市100035 [2]首都医科大学附属北京积水潭医院骨肿瘤科 [3]国家骨科医学中心 [4]北京积水潭骨科机器人工程研究中心有限公司

出　　处：《中国肿瘤临床》2024年第8期418-424,共7页Chinese Journal of Clinical Oncology

基　　金：国家重点研发计划项目(编号:2023YFB4706300、2021YFC2400500);北京市自然科学基金项目(编号:L212042);北京市属医院科研培育计划项目(编号:PX2021015);北京积水潭医院“学科骨干”计划专项经费项目(编号:XKGG202105);北京积水潭医院院级科研基金项目(编号:2023OSR-GCZX202206)资助。

摘　　要：硬纤维瘤(desmoidtumor,DT)是一种罕见的局部侵袭性肿瘤,无转移能力,但具有浸润性生长及局部复发的倾向,可严重影响患者功能,造成沉重的临床负担甚至死亡。近20年来,该病的治疗理念发生了巨变,从传统的积极手术转变为以主动监测为一线治疗的保守策略,治疗手段也更加丰富,呈现多学科管理的发展趋势。相关研究指出DT的发病与Wnt及Notch信号通路失调有关,以nirogacestat为代表的多款针对其发病机制的新型药物正在研发中,有望成为该病未来治疗的新方向。本文就DT的分子发病机制和治疗进展进行综述,为该病的临床治疗及未来研究提供依据和方向。Desmoid tumors(DT)are rare,locally aggressive tumors that lack metastatic ability but tend to grow invasively and recur locally.This can severely impair patient function,thereby causing significant clinical burden and even death.Over the past 20 years,there has been a significant shift in the treatment philosophy for this disease.Conservative methods with active surveillance are being employed as the firstline of treatment as opposed to aggressive surgeries that were previously the norm.The range of treatment options has also expanded,revealing a trend towards multidisciplinary management.Studies have indicated the pathogenesis of DT to be linked to the dysregulation of Wnt and Notch signaling pathways.Several new drugs targeting these pathways,such as nirogacestat,are currently under development and are expected to be a part of future treatments for this disease.This article reviews the molecular pathogenesis and advances in the treatment of DT,providing a basis and direction for clinical treatment and future research on this disease.

关 键 词：硬纤维瘤 分子发病机制 治疗进展 治疗策略 nirogacestat 

分 类 号：R730.2[医药卫生—肿瘤]