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JPTM > Ahead-of Print

doi: https://doi.org/10.4132/jptm.2018.08.30    [Epub ahead of print]
TFE3-Expressing Perivascular Epithelioid Cell Tumor of the Breast
Hyunjin Kim1, Jimin Kim1, Se Kyung Lee2, Eun Yoon Cho1, Soo Youn Cho1
1Department of Pathology and Translational Genomics, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Corresponding Author: Soo Youn Cho ,Tel: +82-2-3410-2817, Fax: +82-2-3410-0025, Email: sooyoun.cho@samsung.com
Received: June 29, 2018;  Revised: August 17, 2018  Accepted: August 30, 2018.  Published online: October 1, 2018.
ABSTRACT
Perivascular epithelioid cell tumor (PEComa) is a very rare mesenchymal tumor with a distinctive morphology and immunophenotype. PEComas usually harbor TSC2 alterations, although TFE3 translocations, which occur in MiT family translocation renal cell carcinoma and alveolar soft part sarcoma, are also possible. We recently experienced a case of PEComa with TFE3 expression arising in the breast. An 18-year-old female patient presented with a right breast mass. Histologically, the tumor consisted of epithelioid cells with alveolar structure and showed a diffuse strong expression of HMB45 and TFE3. TSC2 was preserved. Melan A and smooth muscle actin were negative. To our knowledge, this is the first Korean case of PEComa of the breast that intriguingly presented with TFE3 expression.
Key Words: Perivascular epithelioid cell tumor; PEComa; TFE3; Breast