AI Article Synopsis
- - Tenosynovial giant cell tumor (TGCT) is a rare tumor that arises from the synovium in joints and tendon sheaths, often associated with genetic changes involving the CSF1 gene; symptoms like pain and swelling are common but not specific, requiring MRI and biopsy for accurate diagnosis.
- - A case study of a 45-year-old man initially diagnosed with Erdheim-Chester disease was later correctly identified as TGCT through whole exome sequencing, which showed a CSF1::GAPDHP64 fusion; he was treated successfully with pegylated interferon and imatinib, stabilizing his condition.
- - Single-cell transcriptome analysis highlighted seven cell clusters and revealed that neoplastic cells attract macroph
Article Abstract
Tenosynovial giant cell tumor (TGCT) is a rare type of tumor that originates from the synovium of joints and tendon sheaths. It is characterized by recurring genetic abnormalities, often involving the CSF1 gene. Common symptoms include pain and swelling, which are not specific to TGCT, so MRI and a pathological biopsy are needed for an accurate diagnosis. We report the case of a 45-year-old man who experienced painful swelling in his right hip for six months. Initially, this was diagnosed as Erdheim-Chester disease. However, whole exome sequencing (WES) and RNA-Sequencing revealed a CSF1::GAPDHP64 fusion, leading to a revised diagnosis of TGCT. The patient was treated with pegylated interferon and imatinib, which resulted in stable disease after three months. Single-cell transcriptome analysis identified seven distinct cell clusters, revealing that neoplastic cells expressing CSF1 attract macrophages. Analysis of ligand-receptor interactions showed significant communication between neoplastic cells and macrophages mediated by CSF1 and CSF1R. Our findings emphasize the importance of comprehensive molecular analysis in diagnosing and treating rare malignancies like TGCT.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464255 | PMC |
| http://dx.doi.org/10.3389/fonc.2024.1445427 | DOI Listing |
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