Working Diagnosis:
Tenosynovial Giant Cell tumor, diffuse type

Treatment:
Our patient was referred to an orthopedic foot and ankle surgeon and orthopedic oncologist who performed an excision of the mass. No further decortication or bone grafting of the talus was performed due to concern that this may increase future fracture risk. Surgical pathology again confirmed our diagnosis and a mutation panel was performed, which was negative. After this, he was placed in a tall walking boot and advised to follow up with orthopedic surgery at 6 weeks.

Outcome:
After being placed in boot he started rehab and early range of motion and progressed quickly. He was removed from boot at 6 weeks postoperatively and has since been doing well with weight bearing and continues to excel in rehab. He had a 3 month postoperative MRI Case Photo #10 , which showed bony healing without recurrence of disease. He has since returned to sport and has been playing spring soccer without difficulty.

Author's Comments:
Tenosynovial giant cell tumors (TGCT) are a group of rare benign tumors that typically involve the synovium, tendon sheath, or the bursae. Although they are benign, they can grow and cause damage to surrounding tissues. The hand is the most common site for these tumors and represents 80% of cases. There are two subtypes of TGCT. The diffuse type is more commonly seen in the hind foot compared to the forefoot in the localized type. Diffuse type is also more aggressive, have bony invasion and cause long term bony sequelae. For this reason, excision was chosen as first line treatment despite it being the beginning of the season. Given high incidence of recurrence of TGCT, up to 45% in diffuse type, MRI was repeated at 3 months postoperatively and TGCT will be on the differential for future soft tissue swelling in this athlete.

Editor's Comments:
Tenosynovial Giant Cell Tumor (TGCT) is also known as Pigmented Villonodular Synovitis (PVNS). Despite a relatively low risk of metastasis, diffuse type TGCT, as seen in this patient, can have a rate of recurrence of over 40%. Progressive joint destruction from recurrences is often the cause of long-term complications or even amputation in these patients. There are some systemic agents in development targeting specific gene expressions on the horizon for these difficult cases. It is important to maintain a broad differential when dealing with atraumatic joint swelling in an otherwise healthy individual, especially when refractory to proper early conservative care.

References:
Cevik HB, et al.Tenosynovial giant cell tumor in the foot and ankle, Foot and Ankle Surgery, Volume 26, Issue 6, 2020, Pages 712-716, ISSN 1268-7731

Stacchiotti S, et al. Best clinical management of tenosynovial giant cell tumour (TGCT): A consensus paper from the community of experts. Cancer Treat Rev. 2023 Jan;112:102491. doi: 10.1016/j.ctrv.2022.102491. Epub 2022 Dec 6.

Ehrenstein V, Andersen SL, Qazi I, Sankar N, Pedersen AB, Sikorski R, Acquavella JF. Tenosynovial Giant Cell Tumor: Incidence, Prevalence, Patient Characteristics, and Recurrence. A Registry-based Cohort Study in Denmark. J Rheumatol. 2017 Oct;44(10):1476-1483. doi: 10.3899/jrheum.160816. Epub 2017 Aug 1. PMID: 28765257.

Griffin AM, Ferguson PC, Catton CN, Chung PW, White LM, Wunder JS, Bell RS, O'Sullivan B. Long-term outcome of the treatment of high-risk tenosynovial giant cell tumor/pigmented villonodular synovitis with radiotherapy and surgery. Cancer. 2012 Oct 1;118(19):4901-9. doi: 10.1002/cncr.26529. Epub 2012 Jan 26. PMID: 22281719.

Cassier PA, Italiano A, Gomez-Roca C, Le Tourneau C, Toulmonde M, D'Angelo SP, Weber K, Loirat D, Jacob W, Jegg AM, Michielin F, Christen R, Watson C, Cannarile M, Klaman I, Abiraj K, Ries CH, Weisser M, Rüttinger D, Blay JY, Delord JP. Long-term clinical activity, safety and patient-reported quality of life for emactuzumab-treated patients with diffuse-type tenosynovial giant-cell tumour. Eur J Cancer. 2020 Dec;141:162-170. doi: 10.1016/j.ejca.2020.09.038. Epub 2020 Nov 5. PMID: 33161240.

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