Desmoid fibromatosis through the patients' eyes: time to change the focus and organisation of care?

Olga Husson, Eugenie Younger, Alison Dunlop, Lucy Dean, Dirk C Strauss, Charlotte Benson, Andy J Hayes, Aisha Miah, Winan van Houdt, Shane Zaidi, Myles Smith, John Williams, Robin L Jones, Winette T A van der Graaf, Olga Husson, Eugenie Younger, Alison Dunlop, Lucy Dean, Dirk C Strauss, Charlotte Benson, Andy J Hayes, Aisha Miah, Winan van Houdt, Shane Zaidi, Myles Smith, John Williams, Robin L Jones, Winette T A van der Graaf

Abstract

Purpose: Desmoid fibromatosis (DF) is a rare, unpredictable disease with no established, evidence-based treatments. Individual management is based on consensus algorithms. This study aimed to examine the specific health-related quality of life challenges faced by DF patients, current experiences and expectations of care.

Methods: Twenty-seven DF patients were purposively sampled from The Royal Marsden Hospital. Two focus groups and 13 interviews (males 12, females 15; mean age at study 39.5 years) explored health-related quality of life issues and experiences of healthcare. Thematic content was analysed.

Results: Discussions revealed four key themes (diagnostic pathway; treatment pathway; living with DF; supportive care). Diagnostic delay resulted from lack of recognition by patients and healthcare professionals. Some patients received an initial diagnosis of cancer, causing significant distress. Treatment decisions were challenging, and patients experienced uncertainty among clinicians about optimal therapies. Side-effects of treatment were severe, including fatigue, nausea, anorexia, low libido and depression. Pain was the most debilitating symptom and dependency on painkillers was a significant concern. Functional limitation and restricted mobility frequently affected daily activities. Patients experienced difficulty accomplishing their role in society; relationship problems, caring for children, employment and financial difficulties. Social isolation and lack of understanding were common. The psychological impact of this "life-changing and life-long" condition was profound. All patients requested knowledgeable healthcare professionals, more information, continuity of care and peer support.

Conclusions: DF patients face complex physical, psychological and practical challenges. Comprehensive care services are needed. Increasing awareness may help to improve diagnostic pathways and overall patient experience.

Keywords: Desmoid-type fibromatosis; Functional limitation; Health-related quality of life; Pain; Supportive care.

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Schematic representation of main findings

References

    1. Otero S, Moskovic EC, Strauss DC, Benson C, Miah AB, Thway K, Messiou C. Desmoid-type fibromatosis. Clin Radiol. 2015;70:1038–1045. doi: 10.1016/j.crad.2015.04.015.
    1. WHO Classification of Tumours, Volume 5 IARC WHO Classification of Tumours, No 5 Fletcher, C. D.M., Bridge, J.A., Hogendoorn, P., Mertens, F Desmoid-type fibromatosis. Lyon: IARC Press, 2013
    1. Reitamo JJ, Hayry P, Nykyri E, Saxen E. The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol. 1982;77:665–673. doi: 10.1093/ajcp/77.6.665.
    1. Kasper B, Strobel P, Hohenberger P. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist. 2011;16:682–693. doi: 10.1634/theoncologist.2010-0281.
    1. Kasper B, Baumgarten C, Garcia J, Bonvalot S, Haas R, Haller F, Hohenberger P, Penel N, Messiou C, van der Graaf WT, Gronchi A, Desmoid Working Group. Bauer S, Blay JY, van Coevorden F, Dileo P, Dürr HR, Fiore M, Grünwald V, Jones R, Judson I, Kettelhack C, Kopeckova K, Lazar A, Lindner LH, Martin-Broto J, Rutkowski P, Stacchiotti S, Stoeckle E, Valverde C, Verhoef K, Wardelmann E, Wartenberg M. An update on the management of sporadic desmoid-type fibromatosis: a European consensus initiative between sarcoma PAtients EuroNet (SPAEN) and European Organization for Research and Treatment of Cancer (EORTC)/Soft Tissue and Bone Sarcoma Group (STBSG) Ann Oncol. 2017;28:2399–2408. doi: 10.1093/annonc/mdx323.
    1. Kasper B, Baumgarten C, Bonvalot S, Haas R, Haller F, Hohenberger P, Moreau G, van der Graaf W, Gronchi A, Desmoid Working Group Management of sporadic desmoid-type fibromatosis: a European consensus approach based on patients' and professionals' expertise - a sarcoma patients EuroNet and European Organisation for Research and Treatment of Cancer/Soft Tissue and Bone Sarcoma Group initiative. Eur J Cancer. 2015;51:127–136. doi: 10.1016/j.ejca.2014.11.005.
    1. Potter BK, Forsberg JA. Is hope a method? Commentary on an article by Sylvain Briand, MD, et al.: Wait-and-see policy as a first-line management for extra-abdominal desmoid tumors. J Bone Joint Surg Am. 2014;96:e69–1-2. doi: 10.2106/JBJS.N.00020.
    1. Salas S, Dufresne A, Bui B, Blay JY, Terrier P, Ranchere-Vince D, Bonvalot S, Stoeckle E, Guillou L, le Cesne A, Oberlin O, Brouste V, Coindre JM. Prognostic factors influencing progression-free survival determined from a series of sporadic desmoid tumors: a wait-and-see policy according to tumor presentation. J Clin Oncol. 2011;29:3553–3558. doi: 10.1200/JCO.2010.33.5489.
    1. Bonvalot S, Eldweny H, Haddad V, Rimareix F, Missenard G, Oberlin O, Vanel D, Terrier P, Blay JY, le Cesne A, le Péchoux C. Extra-abdominal primary fibromatosis: aggressive management could be avoided in a subgroup of patients. Eur J Surg Oncol. 2008;34:462–468. doi: 10.1016/j.ejso.2007.06.006.
    1. Szucs Z, Messiou C, Wong HH, Hatcher H, Miah A, Zaidi S, van der Graaf WTA, Judson I, Jones RL, Benson C. Pazopanib, a promising option for the treatment of aggressive fibromatosis. Anti-Cancer Drugs. 2017;28:421–426. doi: 10.1097/CAD.0000000000000474.
    1. Kummar S, O'Sullivan Coyne G, Do KT, et al. (2017) Clinical Activity of the gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors (Aggressive Fibromatosis). Journal of clinical oncology : official journal of the American Society of Clinical Oncology 35(14):1561–1569
    1. Villalobos VM, Hall F, Jimeno A, et al. (2018) Long-Term Follow-Up of Desmoid Fibromatosis Treated with PF-03084014, an Oral Gamma Secretase Inhibitor. Ann Surg Oncol 10.1245/s10434-017-6082-1
    1. Aaronson NK, Ahmedzai S, Bergman B, Bullinger M, Cull A, Duez NJ, Filiberti A, Flechtner H, Fleishman SB, Haes JCJM, Kaasa S, Klee M, Osoba D, Razavi D, Rofe PB, Schraub S, Sneeuw K, Sullivan M, Takeda F. The European Organization for Research and Treatment of Cancer QLQ-C30: a quality-of-life instrument for use in international clinical trials in oncology. J Natl Cancer Inst. 1993;85:365–376. doi: 10.1093/jnci/85.5.365.
    1. Fayers P, Aaronson NK, Bjordal K, Group. ObotEQoL. The EORTC QLQ-C30 scoring manual. Brussels: EORTC,2001
    1. Braun VCV. Using thematic analysis in psychology. Qual Res Psychol. 2006;3:77–101. doi: 10.1191/1478088706qp063oa.
    1. Joffe H YL (2004) Content and thematic analysis. Methods Clin Health Psychol; 56
    1. Elliott E, Zurynski Y. Rare diseases are a ‘common’ problem for clinicians. Aust Fam Physician. 2015;44:630–633.
    1. Forbes LJ, Warburton F, Richards MA, Ramirez AJ. Risk factors for delay in symptomatic presentation: a survey of cancer patients. Br J Cancer. 2014;111:581–588. doi: 10.1038/bjc.2014.304.
    1. Kostopoulou O, Delaney BC, Munro CW. Diagnostic difficulty and error in primary care--a systematic review. Fam Pract. 2008;25:400–413. doi: 10.1093/fampra/cmn071.
    1. Buvarp Dyrop H, Vedsted P, Raedkjaer M, et al. Routes to diagnosis for suspected sarcoma: the impact of symptoms and clinical findings on the diagnostic process. Sarcoma. 2016;2016:8639272. doi: 10.1155/2016/8639272.
    1. Risberg T, Sorbye SW, Norum J, Wist EA. Diagnostic delay causes more psychological distress in female than in male cancer patients. Anticancer Res. 1996;16:995–999.
    1. Goldstein JA, Cates JM. Differential diagnostic considerations of desmoid-type fibromatosis. Adv Anat Pathol. 2015;22:260–266. doi: 10.1097/PAP.0000000000000077.
    1. Nandra R, Forsberg J, Grimer R. If your lump is bigger than a golf ball and growing, think sarcoma. Eur J Surg Oncol. 2015;41:1400–1405. doi: 10.1016/j.ejso.2015.05.017.
    1. Kasper B, Gruenwald V, Reichardt P, Bauer S, Rauch G, Limprecht R, Sommer M, Dimitrakopoulou-Strauss A, Pilz L, Haller F, Hohenberger P. Imatinib induces sustained progression arrest in RECIST progressive desmoid tumours: final results of a phase II study of the German interdisciplinary sarcoma group (GISG) Eur J Cancer. 2017;76:60–67. doi: 10.1016/j.ejca.2017.02.001.
    1. .
    1. Eastley N, McCulloch T, Esler C, Hennig I, Fairbairn J, Gronchi A, Ashford R. Extra-abdominal desmoid fibromatosis: a review of management, current guidance and unanswered questions. Eur J Surg Oncol. 2016;42:1071–1083. doi: 10.1016/j.ejso.2016.02.012.
    1. Rittenmeyer L, Huffman D, Alagna M, Moore E. The experience of adults who choose watchful waiting or active surveillance as an approach to medical treatment: a qualitative systematic review. JBI Database System Rev Implement Rep. 2016;14:174–255. doi: 10.11124/jbisrir-2016-2270.
    1. Di Maio M, Gallo C, Leighl NB, et al. Symptomatic toxicities experienced during anticancer treatment: agreement between patient and physician reporting in three randomized trials. J Clin Oncol. 2015;33:910–915. doi: 10.1200/JCO.2014.57.9334.
    1. Di Maio M, Basch E, Bryce J, Perrone F. Patient-reported outcomes in the evaluation of toxicity of anticancer treatments. Nat Rev Clin Oncol. 2016;13:319–325. doi: 10.1038/nrclinonc.2015.222.
    1. Glare PA, Davies PS, Finlay E, Gulati A, Lemanne D, Moryl N, Oeffinger KC, Paice JA, Stubblefield MD, Syrjala KL. Pain in cancer survivors. J Clin Oncol. 2014;32:1739–1747. doi: 10.1200/JCO.2013.52.4629.
    1. Williams JE, Peacock J, Gubbay AN, Kuo PY, Ellard R, Gupta R, Riley J, Sauzet O, Raftery J, Yao G, Ross J. Routine screening for pain combined with a pain treatment protocol in head and neck cancer: a randomised controlled trial. Br J Anaesth. 2015;115:621–628. doi: 10.1093/bja/aev263.
    1. Gordon DB, Dahl JL, Miaskowski C, McCarberg B, Todd KH, Paice JA, Lipman AG, Bookbinder M, Sanders SH, Turk DC, Carr DB. American pain society recommendations for improving the quality of acute and cancer pain management: American Pain Society Quality of Care Task Force. Arch Intern Med. 2005;165:1574–1580. doi: 10.1001/archinte.165.14.1574.
    1. Miaskowski C. The next step to improving cancer pain management. Pain Manag Nurs. 2005;6:1–2. doi: 10.1016/j.pmn.2005.04.001.
    1. Oldenmenger WH, Sillevis Smitt PA, van Montfort CA, et al. A combined pain consultation and pain education program decreases average and current pain and decreases interference in daily life by pain in oncology outpatients: a randomized controlled trial. Pain. 2011;152:2632–2639. doi: 10.1016/j.pain.2011.08.009.
    1. Stone DS, Ganz PA, Pavlish C, Robbins WA. Young adult cancer survivors and work: a systematic review. J Cancer Surviv. 2017;11:765–781. doi: 10.1007/s11764-017-0614-3.
    1. Roberts CS, Piper L, Denny J, Cuddeback G. A support group intervention to facilitate young adults' adjustment to cancer. Health Soc Work. 1997;22:133–141. doi: 10.1093/hsw/22.2.133.
    1. Beale IL, Kato PM, Marin-Bowling VM, Guthrie N, Cole SW. Improvement in cancer-related knowledge following use of a psychoeducational video game for adolescents and young adults with cancer. J Adolesc Health. 2007;41:263–270. doi: 10.1016/j.jadohealth.2007.04.006.
    1. Zebrack BJ, Oeffinger KC, Hou P, Kaplan S. Advocacy skills training for young adult cancer survivors: the young adult survivors conference at camp Mak-a-dream. Support Care Cancer. 2006;14:779–782. doi: 10.1007/s00520-005-0906-4.

Source: PubMed

Sponsorit ja yhteistyökumppanit

Sairaudet

Huumeiden interventiot

3
Tilaa