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Peer-reviewedCC BY 4.0Frontiers in Oncology

Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review

  • Yushan Wang1
  • Xuefei Ning1
  • Guofu Xiao1
  • Sumei Wu1
  • Wen Guo1
  • Junfeng Guo2
  • Cheng Lei2
  • Songqing Fan2
  • Xinxue Ma1
  1. 1Department of Pathology, People’s Hospital of Longhui County
  2. 2Department of Pathology, The Second Xiangya Hospital, Central South University
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Abstract

Background: ELOC ( TCEB1 )-mutant renal cell carcinoma (RCC) is a recently recognized molecular subtype formally included the 2022 World Health Organization (WHO) classification. Although morphologically overlapping with clear cell renal cell carcinoma (ccRCC), it remains clinically and radiographically indistinguishable from other RCC subtypes. Because few cases have been reported, we describe an ELOC (TCEB1) -mutant RCC harboring a novel somatic TCEB1 variant, c.227A>G (p.Y76C).

Case presentation: A 52-year-old male presented with an incidentally discovered left renal mass on routine ultrasound. Computed tomography (CT) revealed a round, slightly hypodense lesion, approximately 14×15 mm, in the left kidney. Following retroperitoneal laparoscopic partial nephrectomy, pathological examination and immunohistochemistry (IHC) established the diagnosis, and next-generation sequencing (NGS) identified a novel ELOC ( TCEB1 ) mutation, c.227A>G (p.Y76C).

Conclusion: We report a rare ELOC (TCEB1) ‐mutant RCC carrying one novel missense variant, c.227A>G (p.Y76C), and a frameshift variant, c.171_172insCC (p.N58Pfs*48), in trans. This case adds a newly identified TCEB1 variant to the known spectrum of ELOC -mutant RCC and may help clinicians recognize this rare subtype. We also review the clinicopathological features, immunophenotype, molecular genetic alterations, differential diagnosis, treatment, and prognosis of this entity.

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Cite

BibTeXRIS
BibTeX
@article{wang2026identifying,
  title = {{Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review}},
  author = {Yushan Wang and Xuefei Ning and Guofu Xiao and Sumei Wu and Wen Guo and Junfeng Guo and Cheng Lei and Songqing Fan and Xinxue Ma},
  journal = {Frontiers in Oncology},
  year = {2026},
  month = oct,
  doi = {10.3389/fonc.2026.1989742},
  url = {https://www.frontiersin.org/articles/10.3389/fonc.2026.1989742/full},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review
AU  - Yushan Wang
AU  - Xuefei Ning
AU  - Guofu Xiao
AU  - Sumei Wu
AU  - Wen Guo
AU  - Junfeng Guo
AU  - Cheng Lei
AU  - Songqing Fan
AU  - Xinxue Ma
PY  - 2026
DA  - 2026/10/21
JO  - Frontiers in Oncology
DO  - 10.3389/fonc.2026.1989742
UR  - https://www.frontiersin.org/articles/10.3389/fonc.2026.1989742/full
AB  - Background: ELOC ( TCEB1 )-mutant renal cell carcinoma (RCC) is a recently recognized molecular subtype formally included the 2022 World Health Organization (WHO) classification. Although morphologically overlapping with clear cell renal cell carcinoma (ccRCC), it remains clinically and radiographically indistinguishable from other RCC subtypes. Because few cases have been reported, we describe an ELOC (TCEB1) -mutant RCC harboring a novel somatic TCEB1 variant, c.227A>G (p.Y76C).  Case presentation: A 52-year-old male presented with an incidentally discovered left renal mass on routine ultrasound. Computed tomography (CT) revealed a round, slightly hypodense lesion, approximately 14×15 mm, in the left kidney. Following retroperitoneal laparoscopic partial nephrectomy, pathological examination and immunohistochemistry (IHC) established the diagnosis, and next-generation sequencing (NGS) identified a novel ELOC ( TCEB1 ) mutation, c.227A>G (p.Y76C).  Conclusion: We report a rare ELOC (TCEB1) ‐mutant RCC carrying one novel missense variant, c.227A>G (p.Y76C), and a frameshift variant, c.171_172insCC (p.N58Pfs*48), in trans. This case adds a newly identified TCEB1 variant to the known spectrum of ELOC -mutant RCC and may help clinicians recognize this rare subtype. We also review the clinicopathological features, immunophenotype, molecular genetic alterations, differential diagnosis, treatment, and prognosis of this entity.
SN  - 2234-943X
ER  -