Patient Experience

Delayed diagnosis/Misdiagnosis

Desmoid tumour awareness is important for prompt diagnosis and timely and appropriate disease management1

  • Patients with desmoid tumours face many challenges, including delayed diagnosis or misdiagnosis due to lack of awareness1
  • Misdiagnosis is common in rare diseases such as desmoid tumours and leads to errors in disease management and treatment1
  • 30% to 40% of desmoid tumour cases are reported to be misdiagnosed – a French nationwide survey demonstrated that one-third are misdiagnosed1
  • In a focus group study, several patients were given an initial diagnosis of ‘‘cancer’’ or ‘’malignant sarcoma’’ and informed that the anticipated prognosis was bleak, which caused emotional distress1

Delays in diagnosis are a persistent challenge1

Patients experienced a long diagnostic trajectory within primary and secondary healthcare and were transferred from “hospital to hospital to hospital,” becoming frustrated by lack of continuity and differing opinions offered by clinicians at each hospital appointment.1

  • Patient-related delays can result from the inability to recognise the importance of symptoms1
  • Healthcare professional-related delays can result from:1
    • Practice settings where there is a lack specific expertise in desmoid tumours
    • Potential for incorrect referral
    • Multiple healthcare professional visits prior to a correct diagnosis
Learn more about desmoid tumour diagnosis

Disease burden

Overview

Desmoid tumours are described as benign but, in some cases, are associated with a significant disease3

  • Because of their histology and inability to metastasize, desmoid tumours are sometimes described as benign2
  • Benign can also suggest a manageable course of treatment, which may not be true for your patients3
  • Depending on their location, desmoid tumours can cause debilitating pain, deformity, and even life-threatening organ damage1
  • The true borders of desmoid tumours may not be identifiable as they can infiltrate surrounding tissue, compressing muscles, nerves, and vessels, and complicating attempts to obtain clean margins without leading to morbidity4,5,6

Patients can experience a range of physical, psychological, and practical challenges related to the unpredictable course and aggressiveness of desmoid tumours7

  • Patients can experience compromised quality of life due to diagnostic challenges and the high clinical burden of desmoid tumours, including severe pain, impaired physical function and mobility, and high recurrence rates1
  • This can limit their everyday activities and lead to deterioration in physical, social, and emotional functioning1

Elaborated from table 1, reference 1 and table 2, reference 8.

Data from a Memorial Sloan Kettering/Desmoid Tumor Research Foundation patient-reported outcome (PRO) validation study included patients with desmoid tumours (n=31, age range 20-68, 77% female). Patients participated in 60-minute qualitative phone interviews to provide their perspectives on disease symptoms and impact on their quality of life. Most patients in this study were symptomatic (84%). Tumour site and type varied across patients. The concepts discussed during interviews were used to develop a draft PRO scale, which was further refined in cognitive interviews of additional patients with desmoid tumours (n=15).8

Pain

  • Among all symptoms experienced by patients with desmoid tumours, pain is the most debilitating and has a large impact on quality of life1
    • In a survey conducted by the French patient advocacy group SOS Desmoïde, pain was present in 63% of cases1
    • In a focus group study, dependency on painkillers was a significant concern for several patients, and others found that pain was unresponsive to analgesics1
  • According to data from the ALTITUDES prospective nationwide (France) clinical-biological cohort of newly diagnosed desmoid-type fibromatosis cases, the two determinants of pain were the tumor size and DF location. Pain was more frequent in DF located in the neck and shoulder (OR: 3.05; 95% CI: 1.27-7.29) and less frequent in DF located in the abdominal wall (OR: 0.52; 95% CI: 0.31-0.86) or in intra-abdominal or pelvic soft tissue (OR: 0.42; 95% CI: 0.19-0.93, p<0.001)9
  • Pain was more frequent in tumors larger than 50 mm (OR: 1.77; 95% CI, 1.13-2.77; P=0.013)9
  • Presence of pain at diagnosis was associated with worse prognosis, irrespective of first-line treatment (hazard ratio, 2.0; 95% CI, 1.3–2.9; P = 0.006)1
    • The 3-year event-free survival probability in the absence of baseline pain was 72.2% (95% CI, 65.1–78.1) and 53.9% in the presence of baseline pain (95% CI, 43.3–63.4)1
  • Pain was also associated with lower performance status (P = 0.024) and functional impairment (P = 0.001)1

Functional impact
The most frequent reported symptoms, across tumour locations1,8
  • Disfigurement (81%)
  • Nerve pain (71%)
  • Decreased range of movement (68%)
  • Muscle pain (65%)
  • Fatigue (65%)
Most frequently reported impact on patients’ lives1,8
  • Fear (84%)
  • Sleep disturbance (77%)
  • Concern about lack of knowledge among healthcare professionals (74%)

Disfigurement (alteration with functional impact) is common and often a result of surgical intervention.10

In one study, all patients with extremity desmoid tumours (n=21) experienced functional impairment in adjacent joints following surgery.10

Emotional and social impact

Desmoid tumours can have a major impact on many aspects of patients’ lives, including social interactions, ability to work, and relationships7

Emotional
  • Low self-esteem, lifestyle changes, family planning issues, uncertainty11
  • Anxiety, depression, and poor well-being were reported to be more severe in patients with abdominal wall desmoid tumours than patients with malignant sarcoma12
Social
  • Work interruptions, impact on family life and social relationships, financial distress3,11

Health-related quality of life (HRQoL)

The substantial symptom burden, chronic nature, and low mortality rates make the assessment of HRQoL highly relevant in patients with desmoid tumours7

  • HRQoL provides important additional information alongside objective outcome measures to assess clinical benefit of treatment7
  • In recent years, two desmoid‐specific HRQoL tools have been developed to measure symptoms and disease impact of desmoid tumours7
    • The validated GODDESS tool was developed for both sporadic and FAP‐associated desmoid tumours7
    • The DTF‐QoL questionnaire was developed for sporadic desmoid tumours and is designed to be used in combination with the EORTC QLQ‐C307
  • Both desmoid tumour‐specific questionnaires can be used in future clinical studies and clinical care7
  • The use of these desmoid tumour‐specific HRQoL tools can help to identify patients at risk of poor outcomes and provide more personalised care7
Learn more about GODDESS and DTF-QoL

Unmet need

Patients need disease control and symptom improvement1, 13

The goals of treatment for desmoid tumours include:13
Long-term tumour control without compromising structure or function
A reduction in desmoid tumour-specific symptom burden (e.g., pain) and its impact on patients’ lives
Improvement in functioning with daily activities
Overall quality of life

It is important that patients are evaluated by a multidisciplinary team with expertise and experience in sarcoma to help optimise patient management and realise treatment goals.1

Learn more about desmoid tumour diagnosis

DTF‐QoL, Desmoid‐Type Fibromatosis‐specific HRQoL questionnaire; EORTC QLQ‐C30, European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30; GODDESS, Gounder/DTRF Desmoid Symptom/Impact Scale; HRQoL, Health-Related Quality of Life; PRO, Patient-Reported Outcome.

  1. Bektas M et al. Desmoid tumors: a comprehensive review. Adv Ther. 2023 40(9):3697-3722.
  2. Joglekar SB et al. Current perspectives on desmoid tumors: the Mayo Clinic approach. Cancers (Basel). 2011;3(3):3143-3155.
  3. Husson et al. Desmoid fibromatosis through the patients’ eyes: time to change the focus and organisation of care? Support Care Cancer. 2019;27(3):965-980.
  4. Constantinidou A et al. Clinical presentation of desmoid tumors. In: Litchman C, ed. Desmoid Tumors. Springer; 2012:chap 2. Accessed April 9, 2024. https://www.researchgate.net/publication/226455135.
  5. Bonvalot S et al. The treatment of desmoid tumors: a stepwise clinical approach. Ann Oncol. 2012;23(suppl 10):x158-x166.
  6. Skubitz KM. Biology and treatment of aggressive fibromatosis or desmoid tumor. Mayo Clin Proc. 2017;92(6):947-964.
  7. Kasper B et al. Desmoid tumor working group. Current management of desmoid tumors: a review. [supplementary appendix] JAMA Oncol. 2024;10(8):1121-1128.
  8. Gounder MM et al. Prospective development of a patient-reported outcomes instrument for desmoid tumors or aggressive fibromatosis. Cancer. 2020;126(3):531-539.
  9. Penel N et al. Pain in desmoid-type fibromatosis: prevalence, determinants and prognosis value. Int J Cancer. 2023;153(2):407-416.
  10. Nishida Y et al. Transition of treatment for patients with extra-abdominal desmoid tumors: nagoya university modality. Cancers (Basel). 2012;4(1):88-99.
  11. Timbergen MJM et al. Identification and assessment of health-related quality of life issues in patients with sporadic desmoid-type fibromatosis: a literature review and focus group study. Qual Life Res. 2018;27(12):3097-3111.
  12. Ingley KM et al. High prevalence of persistent emotional distress in desmoid tumor. Psychooncology. 2020;29(2):311-320.
  13. Fernandez MM et al. Disease and economic burden of surgery in desmoid tumors: a review. Expert Rev Pharmacoecon Outcomes Res. 2023;23(6):607-618.