纤维瘤(DT)很少见,以局部侵袭性生长为特征的中级肉瘤,通常发生在腹内,在腹壁,或四肢。纤维瘤在女性中的发病率是男性的2-3倍,大多数患者在诊断时年龄<40岁。DT的临床病程变化很大,但很少致命,20年中位总生存率>80%。然而,患者发病率和DT症状负担可能很高。DT显著降低患者的生活质量,强加大量的身体,情感,和社会负担。疼痛,疲劳,失眠是常见的症状;毁容,流动性限制,and,很少,也可能导致截肢的需要。尽管它对生存的影响有限,DT患者的焦虑和抑郁水平可能与恶性肉瘤相关。因此,DT强加了一系列重要的,年轻患者人群的长期发病率。为了评估这些疾病的影响,使用患者报告结果(PRO)工具,评估对超出传统肿瘤学终点的患者具有重要意义的结局。可以使用普通或肿瘤学相关的PRO;尽管目前,唯一特定于DT的,经过验证的PRO措施是GOunder/desmoid肿瘤研究基金会DEsmoid症状/影响量表(GODDESS©),由11项DT症状量表(DTSS)和17项DT影响量表(DTIS)组成。DTSS和DTIS是DeFi的次要终点,nirogacestat的随机3期试验;盲法,来自DeFi的汇总数据用于验证GODDESS可靠性和响应性作为DT中的PRO指标.另一个特定于DT的PRO措施,纤维样型纤维瘤病生活质量(DTF-QoL)问卷,已开发但尚未验证。随着新型DT疗法的不断发展,将特定于DT的PRO措施纳入临床试验将是捕获患者声音的关键,改善对这一独特患者群体重要的结果,并协助患者和提供者选择最佳治疗方法。
Desmoid tumors (DT) are rare, intermediate-grade sarcomas characterized by locally aggressive growths that commonly occur intra-abdominally, in the abdominal wall, or in the extremities. Desmoid tumors are 2-3-fold more common in females than males, with most patients aged <40 years at diagnosis. Clinical course of DT is highly variable but rarely fatal, with median overall survival >80% at 20 years. However, patient morbidity and DT symptom burden can be high. DT significantly reduce patient quality of life, imposing substantial physical, emotional, and social burdens. Pain, fatigue, and insomnia are common symptoms; disfigurement, mobility restrictions, and, rarely, the need for amputation may also result. Despite its limited impact on survival, patients with DT may have anxiety and depression levels commensurate with those associated with malignant sarcomas. Thus, DT impose an array of significant, long-term morbidities on a young patient population. In order to evaluate the impact of these morbidities, patient-reported outcome (
PRO) tools are used, which assess outcomes of importance to patients that extend beyond traditional oncology endpoints. General or oncology-related PROs can be used; although currently, the only DT-specific, validated
PRO measure is the GOunder/Desmoid Tumor Research Foundation DEsmoid Symptom/Impact Scale (GODDESS©), consisting of an 11-item DT Symptom Scale (DTSS) and a 17-item DT Impact Scale (DTIS). DTSS and DTIS were secondary endpoints in DeFi, a randomized phase 3 trial of nirogacestat; blinded, pooled data from DeFi were used to validate GODDESS reliability and responsiveness as a
PRO measure in DT. Another DT-specific
PRO measure, the Desmoid-Type Fibromatosis Quality of Life (DTF-QoL) questionnaire, has been developed but not validated. As novel DT therapies continue to be developed, incorporating DT-specific
PRO measures into clinical trials will be key to capturing patient voice, improving outcomes of importance to this unique patient population, and assisting patients and providers in selecting optimal treatment.