The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: A prospective multicenter study Journal Article


Authors: Bernthal, N. M.; Spierenburg, G.; Healey, J. H.; Palmerini, E.; Bauer, S.; Topp Study Group; Gelderblom, H.; Staals, E. L.; Lopez-Bastida, J.; Fronk, E. M.; Ye, X.; Laeis, P.; van de Sande, M. A. J.
Article Title: The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: A prospective multicenter study
Abstract: Background: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It represents a wide spectrum ranging from minimally symptomatic to massively debilitating. Most findings to date are mainly from small, retrospective case series, and thus the morbidity and actual impact of this rare disease remain to be elucidated. This study prospectively explores the management of TGCT in tertiary sarcoma centers. Methods: The TGCT Observational Platform Project registry was a multinational, multicenter, prospective observational study involving 12 tertiary sarcoma centers in 7 European countries, and 2 US sites. This study enrolled for 2 years all consecutive ≥ 18 years old patients, with histologically diagnosed primary or recurrent cases of diffuse-type TGCT. Patient demographic and clinical characteristics were collected at baseline and every 6 months for 24 months. Quality of life questionnaires (PROMIS-PF and EQ-5D) were also administered at the same time-points. Here we report baseline patient characteristics. Results: 166 patients were enrolled between November 2016 and March 2019. Baseline characteristics were: mean age 44 years (mean age at disease onset: 39 years), 139/166 (83.7%) had prior treatment, 71/166 patients (42.8%) had ≥ 1 recurrence after treatment of their primary tumor, 76/136 (55.9%) visited a medical specialist ≥ 5 times, 66/116 (56.9%) missed work in the 24 months prior to baseline, and 17/166 (11.6%) changed employment status or retired prematurely due to disease burden. Prior treatment consisted of surgery (i.e., arthroscopic, open synovectomy) (128/166; 77.1%) and systemic treatments (52/166; 31.3%) with imatinib (19/52; 36.5%) or pexidartinib (27/52; 51.9%). Treatment strategies at baseline visits consisted mainly of watchful waiting (81/166; 48.8%), surgery (41/166; 24.7%), or targeted systemic therapy (37/166; 22.3%). Patients indicated for treatment reported more impairment compared to patients indicated for watchful waiting: worst stiffness NRS 5.16/3.44, worst pain NRS 6.13/5.03, PROMIS-PF 39.48/43.85, and EQ-5D VAS 66.54/71.85. Conclusion: This study confirms that diffuse-type TGCT can highly impact quality of life. A prospective observational registry in rare disease is feasible and can be a tool to collect curated-population reflective data in orphan diseases. Name of registry: Tenosynovial Giant Cell Tumors (TGCT) Observational Platform Project (TOPP). Trial registration number: NCT02948088. Date of registration: 10 October 2016. URL of Trial registry record: https://clinicaltrials.gov/ct2/show/NCT02948088?term=NCT02948088&draw=2. © 2021, The Author(s).
Keywords: diagnosis; surgery; systemic therapies; synovectomy; arthroscopy; diffuse tgct; patient journey; topp registry
Journal Title: Orphanet Journal of Rare Diseases
Volume: 16
ISSN: 1750-1172
Publisher: Biomed Central Ltd  
Date Published: 2021-04-01
Start Page: 191
Language: English
DOI: 10.1186/s13023-021-01820-6
PUBMED: 33926503
PROVIDER: scopus
PMCID: PMC8086070
DOI/URL:
Notes: Article -- Export Date: 1 June 2021 -- Source: Scopus
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  1. John H Healey
    550 Healey