CASE REPORT article
Front. Oncol.
Sec. Genitourinary Oncology
This article is part of the Research TopicKidney Cancer Awareness Month 2025: Current Progress and Future Prospects on Kidney Cancer Prevention, Diagnosis and TreatmentView all 12 articles
A case report: identifying a novel variant in ELOC(TCEB1)-mutant renal cell carcinoma
Provisionally accepted
- Department of Pathology, Second Xiangya Hospital, Central South University, Changsha, China
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ELOC(TCEB1)-mutant renal cell carcinoma [ELOC(TCEB1)-RCC] is a newly recognized type of RCC characterized by clear cell morphology and ELOC(TCEB1) gene mutation. We analyzed one case with a point mutation in TCEB1 c.218T>A (p.V73E), which is a novel mutation site and has not been reported in ELOC(TCEB1)-RCC. The case involved a male individual of age 48, whose computed tomography scan of the abdomen indicated the presence of a solid nodule located in the kidney. The tumor cells showed expression of PAX8, CA9, AMACR/P504S, Vimentin, CK7, CD10, FH, INI1(SMARCB1) and ELOC(TCEB1), and ELOC was mainly located in the nucleus. CD117, TFE3, HMB45, and SDHB were not express, and the expression rate of Ki67 was <5%. The novel variant in ELOC(TCEB1) gene was identified by the next-generation sequencing (NGS) test, subsequently also confirmed by Sanger sequencing. The ELOC(TCEB1) gene mutation testing is helpful for the diagnosis of this type of RCC. The case further expands our knowledge of the spectrum of TCEB1 gene mutation in ELOC(TCEB1)-RCC and enhances the optimization of clinical decision-making.
Keywords: Renal cell carcinoma, ELOC(TCEB1) gene, Novel variant, case report, Next generation sequencing (NGS)
Received: 08 Jul 2025; Accepted: 27 Oct 2025.
Copyright: © 2025 Cheng, Li, Zeng, Zhou and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xiao-Hong Li, li1989@csu.edu.cn
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