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

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.

Purpose: Desmoid tumors are a rare and complex disease characterized by a great diversity in its forms, localizations, and prognosis. Both the disease and the treatment can have a significant impact on quality of life in patients. Given the complexity of the disease and its rarity, the literature on patients’ experience with the disease scarce. The purpose of this study is to investigate illness representations and subjective experience in participants affected with desmoid tumors.

Methods: Telephonic semi-directive interviews were used in French patients over 18 years, diagnosed with desmoid tumor. Data were analyzed through a general inductive method to identify emergent general themes in participants’ discourse.

Results: Participants (8 women, 7 men) in this study were aged between 27 and 71. The analysis revealed eight major themes relative to representations of illness and treatment, live with the illness, the impact of illness on relationships with others, the illness and medical pathways, and the identity changes caused by the illness. The two most salient themes were illness and treatment representations and life with the illness. Those themes were chosen for this study.

Conclusions: The results provide new insights on representation of and experience with desmoid tumors in patients. It brings arguments for the necessity of development wider systematic study to explore those variables in a larger sample during all the illness pathway. Indeed, this population meets particular issues appealing for the development of a specific psychosocial support.

Introduction: Desmoid Tumors (DT) are rare neoplasms with higher incidence in younger women.

Methods: Retrospective, single-center analysis of patients with DT. Variables were age, sex, biopsy, treatment and recurrence. The disease-free survival (DFS) was calculated with the Kaplan-Meier method.

Results: 242 patients were evaluated, mean age was 34 years, 70.7% women, 44.4% originated in the trunk/abdomen and 54.5% had size > 5cm. Surgery was performed in 70.2%, 31% with negative margin and only 57% with previous biopsy. Recurrence rate was 38% and 1,2,5-year DFS was 75.3%, 64.2%, 57.8%, respectively. Size (p = 0.018) and tumor location in the dorsum (p = 0.001), extremities (p = 0.003) and pelvis (p = 0.003) were related to higher relapse rate.

Conclusion: our data reinforces the need to gather data from real world practice and the importance of awareness of DT and medical education about DT behavior and best approach due to the high rates of surgery and elevated number of patients treated without biopsy. Level of Evidence III; Retrospective Comparative Study.

Intra-abdominal desmoid tumors are a rare and complex clinical problem. These tumors are locally invasive, and surgical ablation represents the mainstay of treatment. When localized at the root of the mesentery, their resection may require extensive excision of the intestine resulting in intestinal failure and life-long total parenteral nutrition. Intestinal transplantation, either autotransplantation or allotransplantation, has been used as a viable option to treat this group of patients. Herein, we describe a series of 4 patients with unresectable intra-abdominal desmoid tumor who underwent cadaveric isolated intestinal and ascending colon transplantation.

Background: Rare diseases are associated with unique challenges encountered in diagnosis, treatment and conduct of clinical research. Desmoid tumour (DT) is one such ultra-rare malignancy about which awareness among medical professionals remains limited. We developed a questionnaire to assess knowledge, attitude and practice (KAP) among medical professionals on DT.

Methods: E-Delphi method was used for the assessment of KAP for DT amongst clinical experts (experience of >/= 3 years in DT). 22 open-ended statements were developed by the core research group using current consensus guidelines. In round 1, experts provided subjective feedback which was incorporated into a 35-item questionnaire. Round 2 entailed experts giving feedback as a 5-point Likert scale classified into agreement (median score >/=4), neutral (median score 3) and disagreement (median score <3). Feedback from Round 2 was incorporated and questions with neutral consensus were modified. Questions in Round 3 achieved consensus if >/= 75% participants agreed.

Results: 11 (64.7%) of 17 contacted experts responded in Round 1 including 6 (54.4%) who gave additional inputs and 5 (45.6%) who agreed to all statements. In round 2, 8 out of 11 experts responded to the 35-item questionnaire on knowledge (n = 16), attitude (n = 8) and practice (n = 11). 32 questions obtained agreement and 3 (8.5%) had neutral consensus. These were modified for round 3, in which consensus on 2 (66.6%) was attained. The final questionnaire comprises 34 items with 15, 8 and 11 questions on in the sections of knowledge, attitude and practice (KAP), respectively.

Objectives: Because size-based imaging criteria poorly capture biologic response in desmoid-type fibromatosis (DF), changes in MRI T2 signal intensity are frequently used as a response surrogate, but remain qualitative. We hypothesized that absolute quantification of DF T2 relaxation time derived from parametric T2 maps would be a feasible and effective imaging biomarker of disease activity.

Methods: This IRB-approved retrospective study included 11 patients with DF, managed by observation or systemic therapy, assessed by 3T MRI. Tumor maximum diameter, volume, and T2-weighted signal intensity were derived from manual tumor segmentations. Tumor:muscle T2 signal ratios were recorded. Two readers measured tumor T2 relaxation times using a commercial T2 scanning sequence, manual ROI delineation and commercial calculation software enabling estimation of reader reliability. Objective response rates based on RECIST1.1 and best responses were compared between size-based and signal-based parameters.

Results: Median patient age was 52.6 years; 8 subjects were female (73%). Nine patients with longitudinal assessments were followed for an average of 314 days. Median baseline tumor diameter was 7.2 cm (range 4.4 – 18.2 cm). Median baseline T2 was 65.1 ms (range 40.4 – 94.8 ms, n=11); median at last follow-up was 44.3 ms (-32% from baseline; range 29.3 – 94.7 ms, n=9). T2 relaxation times correlated with tumor:muscle T2 signal ratios, Spearman p=0.78 (p<0.001). T2 mapping showed high inter-reader reliability, ICC=0.84. The best response as a percentage change in T2 values was statistically significant (mean -17.9%, p=0.05, paired t-test) while change in diameter was not (mean -8.9%, p=0.12). Conclusions: Analysis of T2 relaxation time maps of DF may offer a feasible quantitative biomarker for assessing the extent of response to treatment. This approach may have high inter-reader reliability.