纤维瘤(DT)很少见,当地的侵略性,以浸润性生长为特征并可影响器官和邻近结构的成纤维细胞软组织肿瘤,导致影响患者健康相关生活质量的巨大临床负担。搜索PubMed,Embase,科克伦,和关键会议于2021年11月举行,并在2023年3月之前定期更新,以确定描述DT负担的文章。在确定的651种出版物中,保留了96个相关内容。由于DT的形态异质性和临床表现多变,因此诊断具有挑战性。患者访问多个医疗保健提供者,经常面临正确诊断的延误。DT的低发病率(估计每百万人年3-5例)限制了对疾病的认识。DT患者经历高症状负担:高达63%的患者经历慢性疼痛,导致睡眠障碍(73%的病例),烦躁(46%的病例),和焦虑/抑郁(15%的病例)。经常提到的症状是疼痛,有限的功能和流动性,疲劳,肌肉无力,肿瘤周围肿胀.总的来说,DT患者的生活质量低于健康对照组。没有美国食品和药物管理局批准的DT治疗方法;然而,治疗指南参考可用的选项,比如主动监视,手术,全身治疗,和局部治疗。积极治疗的选择可能取决于肿瘤的位置,症状,和发病风险。DT的巨大疾病负担与难以及时准确诊断有关,高症状负担(疼痛和功能限制),生活质量下降。对于特异性靶向DT并改善生活质量的治疗存在高度未满足的需求。
Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients\' health-related quality of life. Searches of PubMed, Embase, Cochrane, and key conferences were conducted in November 2021 and updated periodically through March 2023 to identify articles describing the burden of DT. Of 651 publications identified, 96 relevant ones were retained. Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. The low incidence of DT (estimated 3-5 cases per million person-years) limits disease awareness. Patients with DT experience a high symptom burden: up to 63% of patients experience chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety/depression (15% of cases). Frequently mentioned symptoms are pain, limited function and mobility, fatigue, muscle weakness, and swelling around the tumor. Overall, quality of life in patients with DT is lower than in healthy controls. There is no treatment approved by the US Food and Drug Administration for DT; however, treatment guidelines reference available options, such as active surveillance, surgery, systemic therapy, and locoregional therapy. Choice of active treatment may depend on tumor location, symptoms, and risk of morbidity. The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. There is a high unmet need for treatments that specifically target DT and improve quality of life.