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Case Report
ELOC-mutated renal cell carcinoma: “Unexpected occurrence in a younger adult”
1 Resident, Department of Pathology, The Ohio State University, Wexner Medical Center, Columbus, OH, USA
2 MD, PhD, Professor, Department of Pathology, The Ohio State University, Wexner Medical Center, Columbus, OH, USA
3 Chair Department of Pathology, The Ohio State University, Wexner Medical Center, Columbus, OH, USA
Address correspondence to:
Akansha Deshwal
Wexner Medical Center, Ohio State University, 410 W 10th Avenue, Columbus, Ohio,
USA
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Article ID: 100095Z11AD2025
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Deshwal A, Kumar H, Jones D, Parwani A. ELOC-mutated renal cell carcinoma: “Unexpected occurrence in a younger adult”. J Case Rep Images Pathol 2025;11(2):17–22.ABSTRACT
ELOC-mutated renal cell carcinoma (RCC) is a rare, molecularly defined RCC described in the 2022 WHO classification of genitourinary tumors. These tumors mostly affect middle-aged to elderly males, with approximately 30 cases reported in the English literature to date. A definitive diagnosis requires the identification of characteristic molecular alterations in conjunction with histopathological findings. Herein, we report an unusual case of ELOC-mutated RCC in a young male, identified by a mutation in the hotspot codon and a 1-copy loss of chromosome 8 sequences consistent with biallelic ELOC dysregulation. Due to its close resemblance to clear cell RCC, it is frequently misclassified, underscoring the importance of molecular characterization for accurate diagnosis. This case report aims to bridge the knowledge gap for this rare entity by focusing on clinical presentation, multimodal diagnostic approach, differential diagnosis, and prognostic considerations.
Keywords: Clear cell, ELOC-mutated RCC, TCEB-1
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Author Contributions
Akansha Deshwal - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Himani Kumar - Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Daniel Jones - Conception of the work, Design of the work, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Anil Parwani - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2025 Akansha Deshwal et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
