Fusion-driven oncogenic programs shape the immune landscape in translocation renal cell carcinoma

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Authors: Prathyusha Konda, Alexandra J. Wakolbinger, Yantong Cui, Gabriel Roberti De Oliveira, Yasmin Nabil Laimon, Cary N. Weiss, Maxwell D. Seager, Riva Deodhar, Jiao Li, Sayed Matar, Jinyu Wang, Jack Horst
+12 more Sabrina Y. Camp, Aseman B. Sheshdeh, Jonathan L. Hecht, David J. Einstein, Yashika Rustagi, Anwesha Nag, Aaron R. Thorner, Cheng‐Zhong Zhang, Eliezer M. Van Allen, Sabina Signoretti, Toni K. Choueiri, Srinivas Raghavan Viswanathan
Cited by: 1
References: 148

Abstract

Renal cell carcinomas comprise multiple molecularly distinct cancers but most are treated empirically with therapies designed for clear cell RCC (ccRCC), the most common subtype, due to incomplete understanding of subtype-specific biology. We analyzed single-cell transcriptomes and chromatin accessibility profiles from translocation renal cell carcinoma (tRCC), an aggressive RCC defined by oncogenic TFE3 gene fusions. Unexpectedly, despite arising from a proximal tubule cell of origin similar to ccRCC, tRCCs display markedly distinct oncogenic programs and an immunosuppressive tumor microenvironment. tRCCs exhibit six conserved tumor meta-programs, including epithelial-mesenchymal transition and proximal tubule identity programs whose balance is regulated by TFE3 fusion activity. The fusion-driven EMT program drives a suppressive TME marked by progenitor-exhausted CD8+ T cells, anti-inflammatory SPP1+ macrophages, and matrix-associated fibroblasts (mCAFs). Our findings highlight unique TFE3 fusion-driven biology in tRCC, explaining its reduced immunotherapy responsiveness relative to ccRCC, and suggesting strategies for targeting fusion-driven oncogenic programs and TME reprogramming.

Fields of Study & Subjects

Renal cell carcinoma treatment Cancer Immunotherapy and Biomarkers Cancer Genomics and Diagnostics

Publication details

Journal / source
Nature Communications
Publisher
Springer Science and Business Media LLC
Volume
17
Issue
1
Publication date
26 August 2026
Language
EN