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CASE REPORT article
Front. Oncol.
Sec. Cancer Molecular Targets and Therapeutics
Volume 14 - 2024 |
doi: 10.3389/fonc.2024.1445427
Case Report: Tenosynovial Giant Cell Tumor
Provisionally accepted- 1 Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Schleswig-Holstein, Germany
- 2 Department of Hematology and Oncology, University Medical Center Schleswig-Holstein, Lübeck, Germany
- 3 Institut für Pathologie, Universität zu Lübeck, Luebeck, Germany
- 4 Department of Pathology, Christian-Albrechts-University, Kiel, Germany, Kiel, Germany
- 5 Institut for Haematopathology, Christian-Albrechts-University, Kiel, Germany
- 6 Klinik für Radiologie und Nuklearmedizin, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Luebeck, Germany
- 7 Ostholstein Onkologie & Ameos Klinikum, Eutin, Germany
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 the diagnosis and treatment of rare malignancies like TGCT.
Keywords: Single cell sequencing (scRNA-seq), RNA-Seq - RNA sequencing, CSF1 fusion transcript, Tenosynovial giant cell tumor (TGCT), Molecular tumor board (MTB)
Received: 07 Jun 2024; Accepted: 06 Sep 2024.
Copyright: © 2024 Fähnrich, Gasimova, Yamil Maluje, Ott, Sievert, Fliedner, Reimer, Künstner, Gebauer, Kebenko, vonBubnoff, Kirfel, sailer, Röcken, Konukiewitz, Klapper, Frydrychowicz, Mogadas, Huebner, Busch and Khandanpour. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Anke Fähnrich, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, 23538, Schleswig-Holstein, Germany
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