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Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: Clinicopathological, immunohistochemical, and molecular features

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Abstract

Perivascular epithelioid cell tumors (PEComas) have been increasingly associated with gene rearrangement of the transcription factor E3 (TFE3). We present three cases of PEComa with a TFE3 gene abnormality detected by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Their clinical features, pathological morphology, and prognosis were investigated. Histologically, the tumors in these three cases showed predominantly epithelioid cells arranged in nests or sheets separated by a delicate vascular network, within two of the three cases nuclear atypia, mitotic figures, and necrosis. All three cases showed strong TFE3 and cathepsin K immunoreactivity and weak to strong reactivity for HMB45. One case of PEComa with TFE3 gene fusion exhibited a benign course. The other two cases of PEComa with both TFE3 translocation and X-chromosome polysomy were histologically malignant and showed aggressive growth. In summary, unusual cases of PEComa with TFE3 gene rearrangement might present malignant histological features and aggressive clinical behavior. Our results add cases to the literature and describe an association of polysomy with aggressive behavior.

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Acknowledgments

We thank the members of The Second Affiliated Hospital of Soochow University and The Second People’s Hospital of Wuhu. This work was supported in part by the National Natural Science Foundation of China (81371611, 81171391, 81372743, 81472391, 81101933) and the National Basic Research Priorities Program 973 Project (2014CB744504) from the Ministry of Science and Technology of China.

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The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Pathology, Jinling Hospital, Southern Medical University, 305 East Zhongshan Road, Nanjing, 210002, China

    Qin Shen, Qiu Rao, Qiu-Yuan Xia, Bo Yu, Qun-Li Shi, Ru-Song Zhang & Xiao-Jun Zhou

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  1. Qin Shen
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  2. Qiu Rao
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  3. Qiu-Yuan Xia
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  4. Bo Yu
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Correspondence to Xiao-Jun Zhou.

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Qin Shen and Qiu Rao contributed equally to this work

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Shen, Q., Rao, Q., Xia, QY. et al. Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: Clinicopathological, immunohistochemical, and molecular features. Virchows Arch 465, 607–613 (2014). https://doi.org/10.1007/s00428-014-1655-x

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