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Liquid-Based Cytologic Features of a Thyroid TFE3-Rearranged PEComa-Like Neoplasm: A Case Report
Wen-Ying Lee1, Sheng-Tsung Chang2,3, Lee-E Huang1
1Division of Cytopathology, Department of Pathology, Chi Mei Medical Center, Tainan, Taiwan.
Diagnostic Cytopathology
|March 13, 2026
Summary
This study describes the first case of a TFE3-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm in the thyroid. Awareness of its cytologic features is crucial to distinguish it from papillary thyroid carcinoma.
Area of Science:
- Oncology
- Cytopathology
- Molecular Pathology
Background:
- Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm.
- Primary thyroid PEComa is exceptionally rare, with TFE3-rearranged PEComas forming a distinct molecular group.
- Cytologic descriptions of PEComa are scarce, especially in the thyroid.
Purpose of the Study:
- To report the first case of a TFE3-rearranged PEComa-like neoplasm involving the thyroid gland.
- To describe the liquid-based cytology findings of this rare thyroid neoplasm.
- To highlight diagnostic challenges and potential pitfalls in differentiating it from papillary thyroid carcinoma.
Main Methods:
- Case report of a 25-year-old woman with a thyroid nodule.
- Liquid-based fine-needle aspiration (FNA) cytology analysis.
- Histologic examination and immunohistochemical studies (TFE3, cathepsin K, desmin, vimentin, PAX8, CD10, MiTF).
Main Results:
- FNA cytology showed epithelioid cells suspicious for papillary thyroid carcinoma.
- Histology revealed a well-circumscribed epithelioid neoplasm with a vascular network.
- Immunohistochemistry confirmed TFE3 rearrangement and excluded other malignancies.
Conclusions:
- This case is the first to describe the liquid-based cytologic features of a thyroid TFE3-rearranged PEComa-like neoplasm.
- Cytologic findings can mimic papillary thyroid carcinoma, necessitating careful evaluation.
- Recognition of this entity is vital for accurate thyroid FNA diagnosis and patient management.
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