Desmoid Tumor Research Foundation

BackgroundDesmoid tumors (DT) are rare, locally aggressive soft tissue tumors that pose considerable diagnostic and treatment challenges, and may negatively impact patients’ overall quality of life (QoL). This analysis examines three aspects of the real-world patient experience with DT: (1) demographics and disease characteristics, (2) the journey from initial signs and symptoms to definitive DT diagnosis and treatment, and (3) QoL. The ongoing Desmoid Tumor Research Foundation (DTRF) Patient Registry and Natural History Study (NHS) examines patient-reported survey data to characterize the real-world nature and impact of DT, including clinical history, prior and current treatment, and QoL. The GOunder/DTRF Desmoid Symptom/Impact Scale (GODDESS©) patient-reported outcomes tool was used to assess DT-specific QoL, such as pain, fatigue, physical functioning, sleep, and emotional impact.MethodsThis analysis was performed on data collected by the DTRF NHS between September 2017 and August 2023 using the most recent survey submitted by participants, including clinical characteristics, treatment experience, and patient-reported outcomes (PROs) data assessed by the GODDESS tool. Where applicable, continuous variables were assessed using descriptive statistics. Between-group proportions were compared using Pearson’s chi-square test or Fisher’s exact test. Analysis of variance was performed to assess the differences in mean time to diagnosis and mean scores of GODDESS Desmoid Tumor Symptom Scale (DTSS) and Desmoid Tumor Impact Scale (DTIS) domains and items across the subgroups of age, current tumor status, and tumor location where appropriate.ResultsSurveys were completed by 399 participants between September 2017 and August 2023. The median age of participants was 38 years; most were female (72%, 288/399), White (84%, 334/399), or resided in North America (86%, 345/399). Signs and symptoms reported at diagnosis included an unexplained bump (60%, 238/399), pain (57%, 226/399), and fatigue (14%, 54/399). A total of 162 participants (41%, 162/399) reported a prior misdiagnosis. Surgical procedures were the most common first-line therapy in those reporting multiple treatments for DT (59%, 74/126), followed by chemotherapy (24%, 30/126). Among 126 participants who reported a prior misdiagnosis and history of surgery for DT, 46% (58/126) reported having received surgery before a definitive DT diagnosis. For those undergoing surgery (any line) post-diagnosis, tumor recurrence was common (63%, 103/163). Participants with the presence of DT at survey completion reported significantly worse scores for pain, extra-abdominal symptoms, fatigue, physical functioning, and sleep in comparison to those without the current presence of a DT (P < 0.05).ConclusionsPatients with DT can experience a high disease burden. Misdiagnosis can lead to unnecessary surgery, potentially delaying an appropriate treatment for DT, and tumor regrowth that can contribute to impaired QoL after surgery. The analysis of NHS data presented in this manuscript highlights real-world experiences of patients with DT and underscores the need for patient-centric treatment strategies and outcomes.