Shah Dev, Matthew Miller, Tom Hu, Cindy McGrath, Roseann I Wu
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引用次数: 0
Abstract
We report a rare TFE3-rearranged perivascular epithelioid cell tumor (PEComa) of the parasternal chest wall diagnosed preoperatively by fine-needle aspiration (FNA) cytology. The smears and cell block showed epithelioid cells with clear to granular cytoplasm and prominent nucleoli. Immunohistochemistry (IHC) demonstrated strong nuclear TFE3 expression and melanocytic marker positivity (diffuse HMB-45, focal Melan-A) with absent smooth muscle marker staining. FISH confirmed a TFE3 rearrangement, and next-generation sequencing identified an SFPQ:TFE3 fusion. The integrated cytologic and molecular workup enabled definitive classification as a TFE3-rearranged PEComa before surgical resection. This case highlights the diagnostic utility of cytologic material for translocation-associated neoplasms and the importance of molecular subtyping for prognosis and treatment.
期刊介绍：
Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.
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