Evidence map›Paper›PMID 39391235›Full record

ArticleFrontiers in oncology2024

Case report: Tenosynovial giant cell tumor.

Anke Fähnrich, Zhala Gasimova, Yamil Maluje, Fabian Ott, Helen Sievert, Stephanie Fliedner, Niklas Reimer, Axel Künstner, Niklas Gebauer, Maxim Kebenko and 11 more

Abstract readCase Reports
In one paragraph

Article in Frontiers in oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Anke FähnrichMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Zhala GasimovaDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Yamil MalujeMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Fabian OttMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Helen SievertDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Stephanie FliednerUniversity Cancer Center Schleswig-Holstein, University Hospital of Schleswig- Holstein, Lübeck, Germany.
Niklas ReimerMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Axel KünstnerMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Niklas GebauerDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Maxim KebenkoDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Nikolas von BubnoffDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Jutta KirfelInstitut for Pathology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Verena-Wilbeth SailerInstitut for Pathology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Christoph RöckenDepartment of Pathology, Christian-Albrechts-University, Kiel, Germany.
Bjoern KonukiewitzDepartment of Pathology, Christian-Albrechts-University, Kiel, Germany.
Wolfram KlapperInstitut for Haematopathology, Christian-Albrechts-University, Kiel, Germany.
Alex FrydrychowiczDepartment of Radiology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Sam MogadasDepartment of Radiology, University Hospital of Schleswig-Holstein, Lübeck, Germany.
Gerdt HuebnerDepartment of Internal Medicine III, Ameos Krankenhausgesellschaft Ostholstein, Eutin, Germany.
Hauke BuschMedical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Cyrus KhandanpourDepartment of Hematology and Oncology, University Hospital of Schleswig-Holstein, Lübeck, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

CSF1 fusion transcriptmolecular tumor board (MTB)RNA sequencing (RNA-seq)single cell sequencing (scRNA-seq)tenosynovial giant cell tumor (TGCT)

Identifiers

PMID39391235
PMCPMC11464255

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.