Primary retroperitoneal renal cell carcinoma associated with transcription EB gene fusion.

IF 4.7 4区医学 N/A MEDICINE, GENERAL & INTERNAL Minerva medica Pub Date : 2024-02-01 Epub Date: 2020-04-01 DOI:10.23736/S0026-4806.20.06527-1

Zhen Liu, Xing Hua

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Abstract

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.

Results: 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. These tumor cells were positive for Pax-8, EMA, TFEB, CK, P504S, Vimentin and CD10 on immunohistochemical 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. Long-term follow-up study is needed in order to acquire better diagonitic quality and fulfill diagnostic requirements.

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与转录 EB 基因融合相关的原发性腹膜后肾细胞癌。

背景：具有不同类型 t(6;11) (p21;q12) 易位（转录因子 EB，TFEB）的肾细胞癌（RCC）是一种罕见肿瘤。而原发性腹膜后 TFEB RCC 则更为罕见。据我们所知，以前还没有关于这类RCC的文献报道。本文报告了一例与转录 EB 基因融合相关的原发性腹膜后肾细胞癌：一名 73 岁的男性患者因腹膜后肿块就诊一个多月。病理检查发现，肿块质地柔软，颜色鲜艳，肿瘤细胞呈双相形态，其特征是较大的上皮样细胞巢围绕着基底膜周围的较小细胞的腔内聚集：这些肿瘤细胞在组织化学染色中Pax8、EMA、TFEB、CK、P504S、Vimentin和CD10阳性，在荧光原位杂交检测中TFEB阳性：我们报告了首例与转录 EB 基因融合相关的原发性腹膜后肾细胞癌。我们报告的病例的病理特征非常典型。最佳治疗方法是全切除。为了获得更好的诊断质量和满足诊断要求，需要进行长期随访研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Minerva medica 医学-医学：内科

CiteScore

6.40

自引率

6.40%

发文量

358

审稿时长

>12 weeks

期刊介绍： Minerva Medica publishes scientific papers on internal medicine. Manuscripts may be submitted in the form of editorials, original articles, review articles, case reports, special articles, letters to the Editor and guidelines. The journal aims to provide its readers with papers of the highest quality and impact through a process of careful peer review and editorial work. Duties and responsibilities of all the subjects involved in the editorial process are summarized at Publication ethics.