Higher incidence rates than previously known in tenosynovial giant cell tumors

Mastboom, Monique J L; Verspoor, Floortje G M; Verschoor, Arie J; Uittenbogaard, Daniël; Nemeth, Banne; Mastboom, W. J. B.; Bovée, Judith V.M.G.; Dijkstra, P.D. Sander; Schreuder, H.W.B.; Gelderblom, Hans; Sande, Michiel A. J. van de

doi:10.1080/17453674.2017.1361126

Cited by 98 publications

(106 citation statements)

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“…The present study con rmed that TGCT has its onset in a relatively young, educated, and working patient population with a female predilection [9,10]. Time between onset of symptoms until diagnosis averaged more than a year, and in this time interval several medical specialists were frequently visited.…”

Section: Discussionsupporting

confidence: 72%

The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective real-world study

Bernthal¹,

Spierenburg²,

Healey³

et al. 2020

Preprint

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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. The majority of 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 explores prospectively the real-world management of TGCT.Methods: The TGCT Observational Platform Project (TOPP) 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, and 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.

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Section: Discussionsupporting

confidence: 72%

The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective real-world study

Bernthal¹,

Spierenburg²,

Healey³

et al. 2020

Preprint

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“…The PALGA database lacks information on tumor type (i.e., whether a giant cell tumor of tenosynovium is a localized type or a diffuse type as this is a combined diagnosis of radiological and pathological examinations), therefore additional chart review in giant cell tumors of tenosynovium was performed and published elsewhere (Mastboom et al. 2017 ).…”

Section: Methodsmentioning

confidence: 99%

Incidence and demographics of giant cell tumor of bone in The Netherlands: First nationwide Pathology Registry Study

et al. 2018

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Background and purpose — Giant cell tumors of bone (GCT-B) are rare, locally aggressive tumors characterized by an abundance of giant cells. Incidence studies for GCT-B are rare. This is the first study using a fully automated 100% covering pathology database, the nationwide Dutch Pathology Registry (17 million inhabitants), PALGA, to calculate incidence rates for GCT-B.Patients and methods — From PALGA, all pathology excerpts were retrieved for patients diagnosed with GCT-B, giant cell tumors of tenosynovium, and giant cell tumors of soft tissue between January 1, 2009 and December 31, 2013. The incidence of GCT-B was calculated.Results — In total, 8,156 excerpts of 5,922 patients were retrieved; these included 138 first GCT-B diagnosis. For GCT-B the incidence was 1.7 per million inhabitants per year with a male to female ratio of 1:1.38 and a median age of 35 years (9–77). Most common localization was the femur (35%), followed by the tibia (18%). No differences in localization according to age and sex were found. The incidence rate of local recurrence was 0.40 per million inhabitants per year.Interpretation — This is the first nationwide study reporting the incidence of GCT-B, based on a nationwide pathology database with 100% coverage of pathology departments. Current incidence calculations are based only on doctor-driven registries. We confirmed that GCT-B is a rare disease with an incidence that is slightly higher than previously published. The relatively young median age of patients and the high incidence of recurrence stresses the importance of developing more effective treatments for this disease.

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“…TGCT usually affects young adults. Since younger patients are more likely to be on the World Wide Web, and our included patient population had a median age of 33 (25-42) years at time of diagnosis, also in concordance with the WHO classification [ 1 , 2 ] and Mastboom et al [ 3 ], we considered our participants representative for the heterogeneous disease TGCT. Additionally, the CHERRIES was completed.…”

Section: Discussionmentioning

confidence: 99%

“…TGCT is a monoarticular disease, concerning large joints, typically about the knee: 46% in localized-type and 64% to 75% in diffuse-type. Male-female ratio is about 1:1.5 for both types, with a median age at the time of TGCT diagnosis of 30 to 50 years [ 1 - 3 ]. Most common initial symptoms are pain, stiffness, and swelling.…”

Section: Introductionmentioning

confidence: 99%

“…Additional symptoms might be limited range of motion, instability, giving way, and locking complaints [ 4 ]. Due to these unspecific signs and the rarity of the disease, patients frequently experience a delay of years in diagnosis [ 3 , 5 , 6 ]. To treat these symptoms, current treatment of choice is surgical excision, either by arthroscopic or open synovectomy [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

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The Patient Perspective on the Impact of Tenosynovial Giant Cell Tumors on Daily Living: Crowdsourcing Study on Physical Function and Quality of Life

Mastboom¹,

Planje²,

Sande³

2018

Interact J Med Res

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BackgroundTenosynovial giant cell tumor (TGCT) is a rare, benign lesion affecting the synovial lining of joints, bursae, and tendon sheaths. It is generally characterized as a locally aggressive and often recurring tumor. A distinction is made between localized- and diffuse-type. The impact of TGCT on daily living is currently ill-described.ObjectiveThe aim of this crowdsourcing study was to evaluate the impact of TGCT on physical function, daily activities, societal participation (work, sports, and hobbies), and overall quality of life from a patient perspective. The secondary aim was to define risk factors for deteriorated outcome in TGCT.MethodsMembers of the largest known TGCT Facebook community, PVNS is Pants!!, were invited to an e-survey, partially consisting of validated questionnaires, for 6 months. To confirm disease presence and TGCT-type, patients were requested to share histological or radiological proof of TGCT. Unpaired t tests and chi-square tests were used to compare groups with and without proof and to define risk factors for deteriorated outcome.ResultsThree hundred thirty-seven questionnaires, originating from 30 countries, were completed. Median age at diagnosis was 33 (interquartile range [IQR]=25-42) years, majority was female (79.8% [269/337]), diffuse TGCT (70.3% [237/337]), and affected lower extremities (knee 70.9% [239/337] and hip 9.5% [32/337]). In 299 lower-extremity TGCT patients (32.4% [97/299]) with disease confirmation, recurrence rate was 36% and 69.5% in localized and diffuse type, respectively. For both types, pain and swelling decreased after treatment; in contrast, stiffness and range of motion worsened. Patients were limited in their employment (localized 13% [8/61]; diffuse 11.0% [21/191]) and sport-activities (localized 58% [40/69]; diffuse 63.9% [147/230]). Compared with general US population, all patients showed lower Patient-Reported Outcomes Measurements Information System-Physical Function (PROMIS-PF), Short Form-12 (SF-12), and EuroQoL 5 Dimensions 5 Levels (EQ5D-5L) scores, considered clinically relevant, according to estimated minimal important difference (MID). Diffuse versus localized type scored almost 0.5 standard deviation lower for PROMIS-PF (P<.001) and demonstrated a utility score of 5% lower for EQ-5D-5L (P=.03). In localized TGCT, recurrent disease and ≥2 surgeries negatively influenced scores of Visual Analog Scale (VAS)-pain/stiffness, SF-12, and EQ-5D-5L (P<.05). In diffuse type, recurrence resulted in lower score for VAS, PROMIS-PF, SF-12, and EQ-5D-5L (P<.05). In both types, patients with treatment ≤1year had significantly lower SF-12.ConclusionsTGCT has a major impact on daily living in a relatively young and working population. Patients with diffuse type, recurrent disease, and ≥2 surgeries represent lowest functional and quality of life outcomes. Physicians should be aware that TGCT patients frequently continue to experience declined health-related quality of life and physical function and often remain limited in daily life, even after treatment...

show abstract

Higher incidence rates than previously known in tenosynovial giant cell tumors

Cited by 98 publications

References 19 publications

The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective real-world study

The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective real-world study

Incidence and demographics of giant cell tumor of bone in The Netherlands: First nationwide Pathology Registry Study

The Patient Perspective on the Impact of Tenosynovial Giant Cell Tumors on Daily Living: Crowdsourcing Study on Physical Function and Quality of Life

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