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TFE3 ‐Rearranged PEComa (‐Like Neoplasm) of the Chest Wall Diagnosed by Fine‐Needle Aspiration: A Case Report

Year: 2025

Type: article

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.

Source: Diagnostic Cytopathology

DOI: 10.1002/dc.70026

Authors: Shah Dev, Matthew Miller, Tom Hu, Cindy McGrath, Roseann I. Wu

Institutions: Hospital of the University of Pennsylvania, University of Pennsylvania

Language: English

Topic: Sarcoma Diagnosis and Treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,920