{
  "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).\n\nCase 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).\n\nConclusion: 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pathology, People’s Hospital of Longhui County",
    "Department of Pathology, The Second Xiangya Hospital, Central South University"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Yushan Wang"
    },
    {
      "affs": [
        0
      ],
      "name": "Xuefei Ning"
    },
    {
      "affs": [
        0
      ],
      "name": "Guofu Xiao"
    },
    {
      "affs": [
        0
      ],
      "name": "Sumei Wu"
    },
    {
      "affs": [
        0
      ],
      "name": "Wen Guo"
    },
    {
      "affs": [
        1
      ],
      "name": "Junfeng Guo"
    },
    {
      "affs": [
        1
      ],
      "name": "Cheng Lei"
    },
    {
      "affs": [
        1
      ],
      "name": "Songqing Fan"
    },
    {
      "affs": [
        0
      ],
      "name": "Xinxue Ma"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bjg612ngs9w55.bib",
  "cited_by": 0,
  "doi": "10.3389/fonc.2026.1989742",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13730895/",
  "id": "bjg612ngs9w55",
  "issns": [
    "2234-943X"
  ],
  "landing_url": "https://www.frontiersin.org/articles/10.3389/fonc.2026.1989742/full",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2740|Renal cell carcinoma treatment"
    ]
  ],
  "openalex": "W7223108739",
  "pdf_url": "https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2026.1989742/pdf",
  "pmcid": "PMC13730895",
  "pmid": "42984691",
  "published": "2026-10-21",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/bjg612ngs9w55.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:13Z",
      "native_id": "10.3389/fonc.2026.1989742",
      "source": "crossref",
      "url": "https://www.frontiersin.org/articles/10.3389/fonc.2026.1989742/full"
    },
    {
      "first_seen": "2026-11-07T12:23:52Z",
      "native_id": "PMC13730895",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fonc.2026.1989742"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "issn:2234-943X",
      "subfield": "oncology"
    }
  ],
  "title": "Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review",
  "title_text": "Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:21:12Z",
  "url": "https://research.draconitic.com/paper/bjg612ngs9w55",
  "venue": "Frontiers in Oncology",
  "versions": []
}