De Novo TFE3-Duplicated Renal Cell Carcinoma Arising From Renal Allograft in End-Stage Renal Disease

Document Type

Conference Proceeding

Publication Date

11-2025

Publication Title

American Journal of Clinical Pathology

Abstract

Introduction/Objective: Renal cell carcinoma (RCC) can develop in end-stage renal disease (ESRD), including failed allografts. While TFE3-rearranged RCC is occasionally seen, TFE3-duplicated RCC arising in end-stage renal allografts has not been well established. We report a case study of a multifocal TFE3-duplicated RCC that arose in a failed renal allograft. Methods/Case Report: A 62-year-old woman received a living-related renal transplantation in 2003 and developed subsequent graft rejection and failure in 2016. Imaging revealed multiple nodules in her renal graft. Core biopsy confirmed PAX8-positive RCC, and she underwent renal graft explant. Gross examination of the graft revealed three yellowish masses ranging from 1.7 to 2.4 centimeters. Microscopically, the lesions showed papillary architecture with clear cytoplasmic epithelial cells displaying grade 3 nuclei. Fluorescence in situ hybridization using TFE3 breakapart probes revealed an additional non-rearranged copy of the TFE3 gene, visualized by three fusion signals in this female patient (due to TFE3’s X-chromosome location). Overall, the findings confirmed multifocal TFE3-duplicated RCC in the kidney graft. Results: NA Conclusion: This case represents the first documented TFE3-duplicated RCC thought to arise de novo in end-stage renal allograft tissue. Unlike other varieties of RCC known to be associated with ESRD, the significance and pathobiology of TFE3-duplicated RCC remains yet to be explored.

Volume

164

Issue

Suppl 1

First Page

S164

Comments

American Society for Clinical Pathology (ASCP) Annual Meeting, November 17-20, 2025, Atlanta, GA

Last Page

S164

DOI

10.1093/ajcp/aqaf121.394

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