Capturing Patient Voice to Improve Outcomes That Matter to Patients with Desmoid Tumor

**Desmoid Tumors (DT): Impact, Morbidity, and the Importance of Patient-Reported Outcomes (PROs)**

Desmoid tumors (DT) are rare, intermediate-grade sarcomas known for their locally aggressive behavior. They commonly develop within the abdomen, the abdominal wall, or the extremities. DTs occur 2-3 times more often in females than males, with most cases diagnosed in patients under 40 years old. Although DTs have a highly variable clinical course and are rarely life-threatening—showing a median overall survival rate of over 80% at 20 years—they can still cause significant morbidity and negatively affect quality of life.

Patients often experience substantial physical, emotional, and social burdens. Common symptoms include pain, fatigue, and insomnia. DTs may also cause disfigurement, restrict mobility, and in rare cases, necessitate amputation. Despite the limited impact of DTs on survival, patients frequently report anxiety and depression levels comparable to those seen in malignant sarcomas. As a result, the condition imposes long-term challenges on a predominantly young patient population.

To assess the impact of these burdens, patient-reported outcome (PRO) tools are used to capture outcomes beyond traditional clinical metrics. General and oncology-specific PRO tools are available, but the only validated, DT-specific PRO measure is the GOunder/Desmoid Tumor Research Foundation’s DEsmoid Symptom/Impact Scale (GODDESS©). This tool includes the 11-item Desmoid Tumor Symptom Scale (DTSS) and the 17-item Desmoid Tumor Impact Scale (DTIS). The GODDESS tool was validated using blinded, pooled data from DeFi, a phase 3 clinical trial evaluating nirogacistat, where DTSS and DTIS served as secondary endpoints.

Another PRO measure tailored for DT, the Desmoid-Type Fibromatosis Quality of Life (DTF-QoL) questionnaire, has also been developed, though it has yet to undergo validation. As new treatments for PF-03084014 DT emerge, integrating DT-specific PRO measures into clinical trials will be essential. These tools help capture the patient experience, guide treatment decisions, and ultimately improve outcomes that matter most to patients and providers alike.