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Diffuse-Type Tenosynovial Giant Cell Tumour Involving Bone Masquerading as Langerhans Cell Histiocytosis
Florence M F Cheung1, Timothy Y C So2, Tony H T Sung3
1Department of Clinical Pathology, Gleneagles Hospital Hong Kong, Wong Chuk Hang, Hong Kong.
Case Reports in Medicine
|September 26, 2022
Summary
A rare foot tumor, diffuse-type tenosynovial giant cell tumor (DTSGCT), mimicked Langerhans cell histiocytosis. CSF1 overexpression in DTSGCT cells attracted Langerhans cells, explaining the diagnostic challenge.
Area of Science:
- Oncology
- Pathology
- Biochemistry
Background:
- Diffuse-type tenosynovial giant cell tumor (DTSGCT) can present with challenging differential diagnoses.
- Langerhans cell histiocytosis (LCH) is a rare disorder that can involve bone and soft tissues.
Observation:
- A case of DTSGCT in the foot was initially misdiagnosed due to overlapping features with LCH.
- Needle biopsy was inconclusive due to extensive bone involvement and the presence of Langerhans cells.
Findings:
- Definitive diagnosis of DTSGCT was achieved through complete surgical curettage specimen analysis, including immunohistochemistry and molecular testing.
- Neoplastic DTSGCT cells overexpressed colony-stimulating factor 1 (CSF1).
- Overexpressed CSF1 attracted and promoted the proliferation of colony-stimulating factor 1 receptor (CSF1R)-positive Langerhans cells, creating a diagnostic mimicry.
Implications:
- Understanding the biomolecular mechanism of CSF1/CSF1R interaction is crucial for diagnosing challenging DTSGCT cases.
- This case highlights the importance of comprehensive histopathological and molecular analysis in differentiating DTSGCT from LCH.
- Accurate diagnosis of DTSGCT is essential for appropriate treatment and management to prevent recurrence or progression.
