TY - JOUR
T1 - Case report
T2 - Tenosynovial giant cell tumor
AU - Fähnrich, Anke
AU - Gasimova, Zhala
AU - Maluje, Yamil
AU - Ott, Fabian
AU - Sievert, Helen
AU - Fliedner, Stephanie
AU - Reimer, Niklas
AU - Künstner, Axel
AU - Gebauer, Niklas
AU - Kebenko, Maxim
AU - von Bubnoff, Nikolas
AU - Kirfel, Jutta
AU - Sailer, Verena Wilbeth
AU - Röcken, Christoph
AU - Konukiewitz, Bjoern
AU - Klapper, Wolfram
AU - Frydrychowicz, Alex
AU - Mogadas, Sam
AU - Huebner, Gerdt
AU - Busch, Hauke
AU - Khandanpour, Cyrus
N1 - Publisher Copyright:
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.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85205845478&partnerID=8YFLogxK
U2 - 10.3389/fonc.2024.1445427
DO - 10.3389/fonc.2024.1445427
M3 - Journal articles
AN - SCOPUS:85205845478
SN - 2234-943X
VL - 14
JO - Frontiers in Oncology
JF - Frontiers in Oncology
M1 - 1445427
ER -
