AUTHOR=Zhu Yin , Fang Mengchao , Wang Shuo 

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

JOURNAL=Frontiers in Oncology

VOLUME=Volume 15 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1703364

DOI=10.3389/fonc.2025.1703364

ISSN=2234-943X

ABSTRACT=ELOC (also referred to as TCEB1)-mutated renal cell carcinoma (ELOC-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 ELOC p.Y79C gene mutation in tumor cells, leading to the definitive diagnosis of ELOC-mutated RCC. Enhancing awareness of this rare tumor is crucial for improving diagnostic accuracy.