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Minerva Medica 2020 Apr 01

DOI: 10.23736/S0026-4806.20.06527-1

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

Primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion

Zhen LIU 1, Xing HUA 2

1 Department of Pathology, School of Clinical Medicine, Guizhou Medical University, Yunyan District, Guiyang, China; 2 Department of Pathology, Guangzhou Red Cross Hospital, Medical College, Jinan University, Guangzhou, P.R. China


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BACKGROUND: Renal cell carcinoma (RCC) with the distinct type of t(6;11) (p21;q12) translocation (transcription factor EB, TFEB) is a rare neoplasm. It is even less when talks about primary retroperitoneal TFEB RCCs. To our knowledge, no previous literature has been reported about this kind of RCCs. In this article, we report a case of primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion.
METHODS: A 73 year old male patient presented with a retroperitoneal mass for more than one month. Pathologically, the mass was soft and colorful, tumor cells showed a biphasic morphology characterized by nests of larger epithelioid cells surrounding intraluminal collections of smaller cells clustered around basement membrane materia.
RESULTS: These tumor cells were positive for Pax8, EMA, TFEB, CK, P504S, Vimentin and CD10 on immonohistochemical stain, and positive for TFEB on fluorescence in situ hybridization assay.
CONCLUSIONS: We reported the first case of primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion. The pathological feature of the case we reported was very typical. The best treatment at presentation is the total resection. Longterm followup study is needed in order to acquire better diagonitic quality and fulfill diagnostic requirements.


KEY WORDS: Renal cell carcinoma; TFEB; Retroperitoneal; Primary; Case report

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