ELOC(TCEB1)-mutated renal cell carcinoma: a case report and clinicopathological analysis

<i>ELOC</i> (also referred to as <i>TCEB1</i>)-mutated renal cell carcinoma (<i>ELOC</i>-mutated RCC) is a rare, molecularly defined RCC newly incorporated into the 2022 5th Edition WHO Classification of Tumours of the Urinary and Male Genital Organs. It exhibits a broad histomorphological spectrum with overlapping features with clear cell RCC, posing diagnostic challenges and potential for misdiagnosis if not considered. This report presents a case initially diagnosed as CK7-positive RCC with fibromyomatous stroma (RCC-FMS). Next-generation sequencing (NGS) revealed a <i>ELOC</i> p.Y79C gene mutation in tumor cells, leading to the definitive diagnosis of <i>ELOC</i>-mutated RCC. Enhancing awareness of this rare tumor is crucial for improving diagnostic accuracy.

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Publication Details

Journal
Frontiers in Oncology
Published
2025-11-20
DOI
https://doi.org/10.3389/fonc.2025.1703364
Primary Topic
Renal cell carcinoma treatment
Type
article
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article

ELOC(TCEB1)-mutated renal cell carcinoma: a case report and clinicopathological analysis

Mengchao Fang, Shuo Wang, Yin Zhu
Frontiers in Oncology
Renal cell carcinoma treatment
article

ELOC(TCEB1)-mutated renal cell carcinoma: a case report and clinicopathological analysis

Mengchao Fang, Shuo Wang, Yin Zhu
article en

Abstract

<i>ELOC</i> (also referred to as <i>TCEB1</i>)-mutated renal cell carcinoma (<i>ELOC</i>-mutated RCC) is a rare, molecularly defined RCC newly incorporated into the 2022 5th Edition WHO Classification of Tumours of the Urinary and Male Genital Organs. It exhibits a broad histomorphological spectrum with overlapping features with clear cell RCC, posing diagnostic challenges and potential for misdiagnosis if not considered. This report presents a case initially diagnosed as CK7-positive RCC with fibromyomatous stroma (RCC-FMS). Next-generation sequencing (NGS) revealed a <i>ELOC</i> p.Y79C gene mutation in tumor cells, leading to the definitive diagnosis of <i>ELOC</i>-mutated RCC. Enhancing awareness of this rare tumor is crucial for improving diagnostic accuracy.

Frontiers in OncologyVol. 15
Ningbo No. 2 Hospital (CN), Hangzhou Cancer Hospital (CN)
Openalex Percentile: Top 49%
Renal cell carcinoma treatment
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ELOC(TCEB1)-mutated renal cell carcinoma: a case report and clinicopathological analysis — Mengchao Fang, Shuo Wang, et al. · Frontiers in Oncology (2025) | TGRS Research Map | TGRS