INTRODUCTION/AIM: We provide the results of a comprehensive literature review of the patient burden of illness of Desmoid Tumors (DT).
METHODS: A review of the literature using PubMed, Embase, Cochrane, and key conferences was conducted in November 2021 to identify articles describing the burden (clinical and humanistic), epidemiology, costs, treatments, and treatment guidelines for DTs.
RESULTS: A total of 541 publications were identified from the searches, and 68 were selected for inclusion in the evidence base for this review. Globally, the incidence of DT is estimated to be around 3 to 5 new cases per year per million population; however, no data on prevalence were identified. Diagnosis of DTs is challenging because of its morphologic heterogeneity and variable clinical presentation and often requires physical examination and a series of diagnostic tests (e.g., imaging, biopsy, immunohistochemistry, molecular testing, etc.). Patients experience multiple visits to healthcare providers and may face delays in receiving a DT diagnosis; up to 40% of DT cases can be misdiagnosed. Patients with DTs experience broad negative impacts on physical, social, and emotional domains as well as a high symptom burden. Up to 63% of patients suffer from chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety (15% of cases). Emotional domain negative impacts may include low self-esteem, lack of choice, and lifestyle changes. Social domain negative impacts may include work interruption, family life disruption, and limited social relationships. Additional negative physical domain impacts associated with surgical treatment include postsurgical infection, scarring, functional limitations, and muscle weakness. Overall, the mean global health status (i.e., quality of life, as measured by the EORTC Core Quality of Life questionnaire [EORTC QLQ-C30]) is lower than in healthy controls (average scores, 65.58 vs. 81.43; P < 0.0001, respectively). There are no studies evaluating the direct or indirect costs associated with the care of patients with DTs in the literature, although a recent study in Denmark reported healthcare resource utilization is higher in patients with DTs than in healthy matched patients. Although no treatment approved by the US Food and Drug Administration currently exists for DTs, some of these tumors can be initially managed through active surveillance. Surgery, locoregional therapy, or systemic therapy, including chemotherapy and tyrosine kinase inhibitors, are treatment options for symptomatic or progressive disease or for preventing significant complications. The lack of approved treatments and robust clinical and quality of life data for DTs limits our understanding of the optimal management and treatment sequence.
CONCLUSION: The substantial burden of illness of DTs is related to misdiagnosis, clinical and chronic symptoms (pain, physical, and functional limitations), and decreased quality of life (due to negative impacts on physical, emotional, and social domains). There is a high unmet need for treatments that target DTs and are associated with improved quality of life for patients.
