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KMID : 1039420230570050284
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Journal of Pathology and Translational Medicine
2023 Volume.57 No. 5 p.284 ~ p.288
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EWSR1 rearranged primary renal myoepithelial carcinoma: a diagnostic conundrum
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Nilay Nishith
Zachariah Chowdhury
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Abstract
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Primary renal myoepithelial carcinoma is an exceedingly rare neoplasm with an aggressive phenotype and Ewing sarcoma breakpoint region 1 (EWSR1) rearrangement in a small fraction of cases. In addition to its rarity, the diagnosis can be challenging for the pathologist due to morphologic heterogeneity, particularly on the biopsy specimen. At times, immunohistochemistry may be indecisive; therefore, molecular studies should be undertaken for clinching the diagnosis. We aim to illustrate a case of primary myoepithelial carcinoma of the kidney with EWSR1-rearrangement in a 67-year-old male patient who presented with right supraclavicular mass, which was clinically diagnosed as carcinoma of an unknown primary. An elaborate immunohistochemical work-up aided by fluorescent in-situ hybridization allowed us to reach a conclusive diagnosis. This unusual case report advocates that one should be aware of the histological mimickers and begin with broad differential diagnoses alongside sporadic ones and then narrow them down with appropriate ancillary studies.
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KEYWORD
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EWSR1 gene rearrangement, Kidney, Myoepithelial carcinoma, Prognosis
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