Palmerini Emanuela, Peta Giuliano, Tuzzato Gianmarco
Osteoncology, Bone and Soft Tissue Sarcomas and Innovative Therapies, IRCCS Istituto Ortopedico Rizzoli, 40136, Bologna, Italy.
IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Oncol Ther. 2024 Dec;12(4):833-841. doi: 10.1007/s40487-024-00298-z. Epub 2024 Aug 19.
Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive tumor of the joints, bursa, and tendon sheath that can cause considerable pain and substantial morbidity. Although surgery is the primary treatment for patients with TGCT, surgical resection is associated with high rates of recurrence, particularly for patients with diffuse TGCT. Pexidartinib, a colony-stimulating factor 1 receptor inhibitor, is approved by the US Food and Drug Administration for the treatment of adult patients with symptomatic TGCT associated with severe morbidity or functional limitations and not amenable to improvement with surgery.
A 32-year-old man presented with intra-articular diffuse TGCT with pain and received noncurative treatment for 5 years (2014-2019). In 2019, the patient was found to have extensive disease accompanied by pain and limited range of motion. The patient's case was presented to a sarcoma multidisciplinary tumor board, who determined that surgery would cause significant morbidity and macroscopic residual tumor. As a result of the extent of disease, young age, and otherwise good health, treatment with pexidartinib was started through a compassionate use program at 800 mg/day. After dose reductions to pexidartinib at 400 mg/day and then 200 mg/day as a result of creatine phosphokinase elevations, the patient achieved a complete response after 2 years of treatment; pain was reduced and mobility was restored. The patient reported no side effects related to pexidartinib treatment. Treatment was stopped in 2022 for future family planning. After pexidartinib therapy was interrupted, the patient's wife had a successful pregnancy and delivery; however, the disease showed a slow but constant clinical deterioration, with a reduction in the range of movement of the affected knee and an apparent increase in widespread TGCT nodules.
Our case is unique because it provides support for pexidartinib use as upfront therapy for TGCT, instead of surgery, in selected cases.
腱鞘巨细胞瘤（TGCT）是一种罕见的、具有局部侵袭性的关节、滑囊和腱鞘肿瘤，可引起相当程度的疼痛和严重的发病率。虽然手术是TGCT患者的主要治疗方法，但手术切除后复发率很高，尤其是弥漫性TGCT患者。培西达替尼是一种集落刺激因子1受体抑制剂，已获美国食品药品监督管理局批准，用于治疗患有严重发病率或功能受限且手术无法改善症状的成年症状性TGCT患者。
一名32岁男性因关节内弥漫性TGCT伴疼痛前来就诊，并接受了5年（2014 - 2019年）的非根治性治疗。2019年，发现该患者病情广泛，伴有疼痛且活动范围受限。患者的病例提交给了肉瘤多学科肿瘤委员会，委员会认为手术会导致严重的发病率和肉眼可见的残留肿瘤。鉴于疾病范围、患者年轻且身体状况良好，通过同情用药项目开始使用培西达替尼，剂量为800毫克/天。由于肌酸磷酸激酶升高，培西达替尼剂量先后减至400毫克/天，然后减至200毫克/天，治疗2年后患者实现完全缓解；疼痛减轻，活动能力恢复。患者报告没有与培西达替尼治疗相关的副作用。2022年因未来计划生育停止治疗。培西达替尼治疗中断后，患者的妻子成功怀孕并分娩；然而，疾病出现缓慢但持续的临床恶化，患侧膝关节活动范围减小，广泛的TGCT结节明显增多。
我们的病例独特之处在于，它为在特定病例中使用培西达替尼作为TGCT的一线治疗而非手术治疗提供了支持。
