Case report: Tenosynovial giant cell tumor.

Autor:	Fähnrich A; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.; University Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany., Gasimova Z; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Maluje Y; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Ott F; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., Sievert H; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Fliedner S; University Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany., Reimer N; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.; University Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany., Künstner A; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.; University Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany., Gebauer N; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Kebenko M; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany., von Bubnoff N; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Kirfel J; Institut for Pathology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Sailer VW; Institut for Pathology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Röcken C; Department of Pathology, Christian-Albrechts-University, Kiel, Germany., Konukiewitz B; Department of Pathology, Christian-Albrechts-University, Kiel, Germany., Klapper W; Institut for Haematopathology, Christian-Albrechts-University, Kiel, Germany., Frydrychowicz A; Department of Radiology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Mogadas S; Department of Radiology, University Hospital of Schleswig-Holstein, Lübeck, Germany., Huebner G; Department of Internal Medicine III, Ameos Krankenhausgesellschaft Ostholstein, Eutin, Germany., Busch H; Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.; University Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany., Khandanpour C; Department of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Jazyk:	angličtina
Zdroj:	Frontiers in oncology [Front Oncol] 2024 Sep 26; Vol. 14, pp. 1445427. Date of Electronic Publication: 2024 Sep 26 (Print Publication: 2024).
DOI:	10.3389/fonc.2024.1445427
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2024 Fähnrich, Gasimova, Maluje, Ott, Sievert, Fliedner, Reimer, Künstner, Gebauer, Kebenko, von Bubnoff, Kirfel, Sailer, Röcken, Konukiewitz, Klapper, Frydrychowicz, Mogadas, Huebner, Busch and Khandanpour.)
Databáze:	MEDLINE
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