Tenosynovial giant-cell tumor (TGCT) and pigmented villonodular synovitis (PVNS) are related conditions with features of both reactive inflammatory disorders and clonal neoplastic proliferations. Chromosomal translocations involving chromosome 1p13 have been reported in both TGCT and PVNS. We confirm that translocations involving 1p13 are present in a majority of cases of TGCT and PVNS and show that CSF1 is the gene at the chromosome 1p13 breakpoint. In some cases of both TGCT and PVNS, CSF1 is fused to COL6A3 (2q35). The CSF1 translocations result in overexpression of CSF1. In cases of TGCT and PVNS carrying this translocation, it is present in a minority of the intratumoral cells, leading to CSF1 expression only in these cells, whereas the majority of cells express CSF1R but not CSF1, suggesting a tumor-landscaping effect with aberrant CSF1 expression in the neoplastic cells, leading to the abnormal accumulation of nonneoplastic cells that form a tumorous mass.
Tenosynovial giant cell tumors (TGCTs) are aggressive tumors often found in younger individuals, leading to long-term disability and typically managed via surgery, which has its own risks.
This review focuses on systemic treatment options, particularly for the diffuse subtype (DT-TGCT), and assesses recent advancements and the historical context of these therapies.
Notable progress includes the development of CSF1 receptor-targeting therapies like pexidartinib, paving the way for further research on treatment effectiveness and optimizing patient outcomes.
Pigmented villonodular synovitis (PVNS) is a joint disorder with two types—localized and diffuse—primarily affecting patients in their 30s and 40s.
A study at King Abdulaziz Medical City analyzed patient outcomes from 2008 to 2019, focusing on surgical resection results, recurrence rates, and symptoms in relation to treatment types, including radiotherapy and surgical methods.
Findings revealed that nearly one-third of patients had prior trauma, with knee involvement being most common, a recurrence rate of 19.2%, and post-operative issues like stiffness occurring in 23.1% of cases.
Diffuse tenosynovial giant cell tumor (D-TGCT), previously known as pigmented villonodular synovitis (PVNS), is a benign, aggressive, and distracting proliferative synovial lesion. D-TGCT is commonly seen in large joints such as the knee and hip. We present the case of a 57-year-old female who initially presented with swelling on the left midfoot that increased over four years.
Real-world treatment patterns in tenosynovial giant cell tumor (TGCT) patients remain unknown. Pexidartinib is the only US FDA-approved treatment for TGCT associated with severe morbidity or functional limitations and not amenable to improvement with surgery. To characterize drug utilization and treatment patterns in TGCT patients.
Tenosynovial giant cell tumour (TGCT), previously called pigmented villonodular tenosynovitis (PVNS), is a rare benign, locally aggressive condition that primarily affects the synovial lining of large joints, such as the knee, the hip, and the ankle. TGCT of the hip joint is a relatively scarce entity, and its diagnosis is often challenging. This article reports a case of TGCT affecting the left acetabulum, the left femoral head, and the ligamentum teres of the hip joint in a 39-year-old woman who presented to our clinic three months after the onset of symptoms.
