腱鞘巨细胞瘤(TGCT)是一种罕见的,关节滑膜引起的局部侵袭性肿瘤,法氏囊,和肌腱鞘影响小关节和大关节。它代表了从最小症状到大规模衰弱的广泛范围。迄今为止,大多数发现主要是从小的,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。这项研究前瞻性地探讨了三级肉瘤中心TGCT的管理。
TGCT观测平台项目注册是一家跨国公司,多中心,前瞻性观察性研究,涉及7个欧洲国家的12个三级肉瘤中心,2个美国网站本研究纳入所有连续2年≥18岁的患者,组织学诊断为弥漫型TGCT的原发性或复发性病例。在基线和每6个月收集患者的人口统计学和临床特征,共24个月。生活质量问卷(PROMIS-PF和EQ-5D)也在同一时间点进行。在这里,我们报告基线患者特征。
在2016年11月至2019年3月之间招募了166名患者。基线特征为:平均年龄44岁(发病时平均年龄:39岁),139/166(83.7%)曾接受过治疗,71/166例患者(42.8%)在原发肿瘤治疗后复发≥1次,76/136(55.9%)就诊医生≥5次,66/116(56.9%)在基线前24个月内错过了工作,和17/166(11.6%)由于疾病负担而改变了就业状况或过早退休。先前的治疗包括手术(即,关节镜,开放性滑膜切除术)(128/166;77.1%)和全身治疗(52/166;31.3%),使用伊马替尼(19/52;36.5%)或帕西达替尼(27/52;51.9%).基线访视时的治疗策略主要包括观察等待(81/166;48.8%),手术(41/166;24.7%),或靶向全身治疗(37/166;22.3%)。与观察等待的患者相比,接受治疗的患者报告的损伤更多:最严重的僵硬NRS5.16/3.44,最严重的疼痛NRS6.13/5.03,PROMIS-PF39.48/43.85和EQ-5DVAS66.54/71.85。
这项研究证实,弥漫型TGCT可以高度影响生活质量。在罕见疾病中进行前瞻性观察登记是可行的,并且可以成为收集孤儿疾病中的策展人群反射数据的工具。注册名称:腱鞘膜巨细胞瘤(TGCT)观测平台项目(TOPP).
NCT02948088。注册日期:2016年10月10日。试验注册记录的URL:https://clinicaltrials.gov/ct2/show/NCT02948088?term=NCT02948088&draw=2。
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 .