Division of Musculoskeletal Oncology, David Geffen School of Medicine at UCLA, Santa Monica, CA, USA.
Department of Orthopaedic Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Orphanet J Rare Dis. 2021 Apr 29;16(1):191. doi: 10.1186/s13023-021-01820-6.
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.
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.
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.
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).
NCT02948088. Date of registration: 10 October 2016. URL of Trial registry record: https://clinicaltrials.gov/ct2/show/NCT02948088?term=NCT02948088&draw=2 .
腱鞘巨细胞瘤（TGCT）是一种罕见的局部侵袭性肿瘤，来源于关节、滑囊和腱鞘的滑膜，影响小关节和大关节。它代表了从轻度症状到严重致残的广泛谱。迄今为止，大多数发现主要来自于小型回顾性病例系列，因此这种罕见疾病的发病率和实际影响仍有待阐明。本研究前瞻性地探讨了三级肉瘤中心 TGCT 的治疗方法。
TGCT 观察平台项目登记处是一项涉及 7 个欧洲国家的 12 个三级肉瘤中心和 2 个美国站点的多中心、前瞻性观察性研究。该研究在 2 年内连续招募所有≥18 岁的患者，这些患者的组织学诊断为弥漫型 TGCT 原发性或复发性病例。在基线和 24 个月内每 6 个月收集一次患者的人口统计学和临床特征。同时还进行了生活质量问卷（PROMIS-PF 和 EQ-5D）的调查。这里我们报告了基线患者特征。
2016 年 11 月至 2019 年 3 月期间，共纳入 166 名患者。基线特征为：平均年龄 44 岁（发病时的平均年龄：39 岁），139/166（83.7%）患者有既往治疗史，71/166 例（42.8%）患者在原发性肿瘤治疗后有≥1次复发，76/136 例（55.9%）患者在基线前 24 个月内就诊于医疗专家≥5 次，66/116 例（56.9%）患者在基线前 24 个月内缺勤，17/166 例（11.6%）因疾病负担过早改变就业状况或退休。既往治疗包括关节镜下、开放性滑膜切除术（128/166；77.1%）和全身治疗（52/166；31.3%），包括伊马替尼（19/52；36.5%）或培昔替尼（27/52；51.9%）。基线就诊时的治疗策略主要包括观察等待（81/166；48.8%）、手术（41/166；24.7%）或靶向系统治疗（37/166；22.3%）。需要治疗的患者与需要观察等待的患者相比，报告了更多的功能障碍：最严重僵硬 NRS 5.16/3.44，最严重疼痛 NRS 6.13/5.03，PROMIS-PF 39.48/43.85，EQ-5D VAS 66.54/71.85。
本研究证实弥漫型 TGCT 可严重影响生活质量。罕见病的前瞻性观察性登记是可行的，可以作为收集孤儿病中具有代表性的人群数据的工具。登记名称：腱鞘巨细胞瘤（TGCT）观察平台项目（TOPP）。
NCT02948088。登记日期：2016 年 10 月 10 日。试验注册网址：https://clinicaltrials.gov/ct2/show/NCT02948088?term=NCT02948088&draw=2 。
