EWSR1 rearranged primary renal myoepithelial carcinoma: a diagnostic conundrum.

IF 1.7 Q3 PATHOLOGY Journal of Pathology and Translational Medicine Pub Date : 2023-09-01 Epub Date: 2023-09-15 DOI:10.4132/jptm.2023.08.08
Nilay Nishith, Zachariah Chowdhury
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Abstract

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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EWSR1重排原发性肾肌上皮癌:一个诊断难题。
原发性肾肌上皮癌是一种极为罕见的肿瘤,具有侵袭性表型和尤因肉瘤断点区1(EWSR1)重排的少数病例。除了罕见之外,由于形态学的异质性,尤其是活检标本,病理学家的诊断可能具有挑战性。有时,免疫组织化学可能是犹豫不决的;因此,应该进行分子研究来确定诊断。我们的目的是说明一例67岁男性患者的原发性肾肌上皮癌EWSR1重排,该患者表现为右锁骨上肿块,临床诊断为未知原发性癌。在荧光原位杂交的辅助下进行了精细的免疫组织化学检查,使我们能够得出结论性诊断。这篇不同寻常的病例报告主张,人们应该意识到组织学拟态者,从广泛的鉴别诊断和零星的鉴别诊断开始,然后通过适当的辅助研究缩小范围。
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来源期刊
CiteScore
5.00
自引率
4.20%
发文量
45
审稿时长
14 weeks
期刊介绍: The Journal of Pathology and Translational Medicine is an open venue for the rapid publication of major achievements in various fields of pathology, cytopathology, and biomedical and translational research. The Journal aims to share new insights into the molecular and cellular mechanisms of human diseases and to report major advances in both experimental and clinical medicine, with a particular emphasis on translational research. The investigations of human cells and tissues using high-dimensional biology techniques such as genomics and proteomics will be given a high priority. Articles on stem cell biology are also welcome. The categories of manuscript include original articles, review and perspective articles, case studies, brief case reports, and letters to the editor.
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