Journal of Pathology and Translational Medicine

Case Study

TFE3-Expressing Perivascular Epithelioid Cell Tumor of the Breast: Hyunjin Kim, Jimin Kim, Se Kyung Lee, Eun Yoon Cho, Soo Youn Cho; J Pathol Transl Med. 2019;53(1):62-65. Published online October 1, 2018; DOI: https://doi.org/10.4132/jptm.2018.08.30

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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.

Citations

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Malignant lung PEComa (clear cell tumor): rare case report and literature review
Marcos Adriano Garcia Campos, Lucas Fernandes Vasques, Rafael Goulart de Medeiros, Érico Murilo Monteiro Cutrim, Ana Júlia Favarin, Sarah Rebecca Machado Silva, Gyl Eanes Barros Silva, Marcelo Padovani de Toledo Moraes, Mariana Lopes Zanatta, Diego Aparec
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Cathepsin K: A Versatile Potential Biomarker and Therapeutic Target for Various Cancers
Die Qian, Lisha He, Qing Zhang, Wenqing Li, Dandan Tang, Chunjie Wu, Fei Yang, Ke Li, Hong Zhang
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Sujin Park, Go Eun Bae, Jiyoung Kim, Hyun-Soo Kim
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Mesonephric-like Adenocarcinoma of the Uterine Corpus: Comprehensive Immunohistochemical Analyses Using Markers for Mesonephric, Endometrioid and Serous Tumors
Hyunjin Kim, Kiyong Na, Go Eun Bae, Hyun-Soo Kim
Diagnostics.2021; 11(11): 2042. CrossRef
Invasive Lobular Carcinoma With Extensive Clear Cells: A Pitfall in Diagnosis
Mark H. Kavesh, Daniel Sanchez, Jaya Ruth Asirvatham
International Journal of Surgical Pathology.2020; 28(2): 169. CrossRef
Glycogen-rich Clear Cell Carcinoma of the Breast: A Comprehensive Review
Semir Vranic, Faruk Skenderi, Vanesa Beslagic, Zoran Gatalica
Applied Immunohistochemistry & Molecular Morphology.2020; 28(9): 655. CrossRef
TFE3-expressing primary perivascular epithelioid cell tumor of the Lymph node mimicking nodal relapse of rectal cancer: A case report
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International Journal of Surgery Case Reports.2019; 59: 46. CrossRef

Case Report

Cytologic Findings of Alveolar Soft Part Sarcoma Presenting with Multiple Pulmonary Masses: A Case Report with Review of Literature.: Na Rae Kim, Jae Y Ro, Eun Kyung Cho, Mi Jin Kim, Jungsuk An, Seung Yeon Ha; Korean J Pathol. 2011;45(1):119-124.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.119

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Abstract PDF

Alveolar soft part sarcoma (ASPS) is a rare malignant soft tissue tumor of uncertain origin, and it has a strong propensity for metastasis to the lungs, bones and brain. We report upon an unusual case of ASPS, presenting as multiple lung nodules with no other detectable primary site, in a 44-year-old man. A fine needle aspiration of the nodules yielded scattered, discohesive cells, each containing an eccentrically displaced nucleus and prominent nucleolus, on a granular background. Tumor cells with numerous bared nuclei, and occasional sheets of epithelioid cells were also found. Under the cytological diagnosis of an unclassified epithelioid malignant tumor, resection of the lung nodules was performed. The histologic findings were consistent with ASPS, showing positive TFE3-nuclear immunoreactivity. There is limited literature concerning cytological findings associated with pulmonary ASPS: especially in cases where the primary site is unknown. Here, we present a cytological review of pulmonary ASPS, investigating the significance of TFE3 staining in the diagnosis of ASPS.

Citations

Citations to this article as recorded by

Alveolar soft part sarcoma: A case report with emphasis on some unusual cytological features
Neelam Sood, Minakshi Gulia
Diagnostic Cytopathology.2018; 46(2): 170. CrossRef

Original Article

Renal Cell Carcinoma Associated with Xp11.2 Translocation: Clinicopathologic and Immunohistochemical Findings of 4 Cases.: Sanghui Park, Ji Eun Kwon, Yeon Lim Suh; Korean J Pathol. 2005;39(6):406-411.

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Abstract PDF: BACKGROUND
The new WHO classification includes the recently described renal cell carcinomas (RCC) that are associated with several different translocations, involving chromosome Xp11.2, and they all result in gene fusions involving the TFE3 gene. The authors describe the clinicopathologic and immunohistochemical findings of 4 patients who had the morphologic features of RCC with Xp11.2 translocations.
METHODS
Among 9 surgically resected and pathologically proven pediatric RCCs, 4 showed a typical RCC histopathology with the Xp11.2 translocation. Immunohistochemical stains were performed for TFE3, AE1/AE3, epithelial membrane antigen, vimentin, HMB45, S-100 protein and CD10.
RESULTS
The 4 study subjects included one male and 3 females, and their chief complaints were gross hematuria and abdominal pain. Histologically, the tumors showed two different histologic types: type 1 tumors (2 cases) that corresponded to those of ASPL-TFE3 RCC, and type 2 tumors (2 cases) that corresponded to PRCC-TFE3 RCC. Nuclear TFE3 immunostaining was seen in 3 cases. All the tumors were immunoreactive for CD10, and vimentin and cytokeratin were expressed in 3 cases and HMB-45 was expressed in 2 cases.
CONCLUSIONS
Our results show that significant numbers of pediatric RCC are translocation-related. Therefore, when one encounters an RCC in the pediatric population, the possibility of a translocation-related RCC should be kept in mind.

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