ArticleClinical cancer research : an official journal of the American Association for Cancer Research2013
Genomic heterogeneity of translocation renal cell carcinoma.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 99 citations in OpenAlex.
- Fusion-driven oncogenic programs shape the immune landscape in translocation renal cell carcinoma.Nature communications · 2026Article
- Integrated Molecular, Genomic, and Clinical Characterization of Pediatric and Adolescent Translocation Renal Cell Carcinoma: A Report from the Children's Oncology Group.Biomedicines · 2026Article
- Review
- TFE3 fusion proteins promoted the progression of Xp11.2 translocation renal cell carcinoma through post-translational modification of PDL1 by upregulating CCND1/Cyclin D1.Cellular oncology (Dordrecht, Netherlands) · 2025Article
- RNA-mediated condensation of TFE3 oncofusions facilitates transcriptional hub formation to promote translocation renal cell carcinoma.Nature communications · 2025Article
- Transcriptionally up-regulation of CDKN1A/p21 by TFE3 fusion proteins worsened TFE3-rearranged renal cell carcinoma.Scientific reports · 2025Article
- Dual Inhibition of CDK4/6 and mTORC1 Establishes a Preclinical Strategy for Translocation Renal Cell Carcinoma.bioRxiv : the preprint server for biology · 2025Article
- TFE3 fusion oncoprotein condensates drive transcriptional reprogramming and cancer progression in translocation renal cell carcinoma.Cell reports · 2025Article
- An engineered tumor organoid model reveals cellular identity and signaling trajectories underlying SFPQ-TFE3 driven translocation RCC.iScience · 2025Article
- Multi-institutional Analysis of Immune-Oncology Combination Therapy for Metastatic MiT Family Translocation Renal Cell Carcinoma.Journal of immunotherapy (Hagerstown, Md. : 1997) · 2025Article
- Cytomorphology and clinicopathologic correlation of TFE3-rearranged renal cell carcinoma.Cancer cytopathology · 2025Article
- Recent progress in non-clear cell renal cell carcinoma: biology and therapeutic strategies.Therapeutic advances in medical oncology · 2025Review
- Management of translocation carcinomas of the kidney.Translational cancer research · 2024Review
- A framework for target discovery in rare cancers.bioRxiv : the preprint server for biology · 2024Article
- Article
- Schlafen-5 inhibits LINE-1 retrotransposition.iScience · 2023Article
- Immune Checkpoint Therapy Combinations in Adult Advanced MiT Family Translocation Renal Cell Carcinomas.The oncologist · 2023Article
- Estrogen associates with female predominance in Xp11.2 translocation renal cell carcinoma.Scientific reports · 2023Article
- Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma.Frontiers in oncology · 2023Article
- Contrast-Enhanced Ultrasound Features of Adult Xp11.2 Translocation Renal Cell Carcinoma: Differential Diagnosis With Three Main Renal Cell Carcinoma Subtypes.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2022Article
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
purposeTranslocation renal cell carcinoma (tRCC) is a rare subtype of kidney cancer involving the TFEB/TFE3 genes. We aimed to investigate the genomic and epigenetic features of this entity. EXPERIMENTAL
designCytogenomic analysis was conducted with 250K single-nucleotide polymorphism microarrays on 16 tumor specimens and four cell lines. LINE-1 methylation, a surrogate marker of DNA methylation, was conducted on 27 cases using pyrosequencing.
resultstRCC showed cytogenomic heterogeneity, with 31.2% and 18.7% of cases presenting similarities with clear-cell and papillary RCC profiles, respectively. The most common alteration was a 17q gain in seven tumors (44%), followed by a 9p loss in six cases (37%). Less frequent were losses of 3p and 17p in five cases (31%) each. Patients with 17q gain were older (P=0.0006), displayed more genetic alterations (P<0.003), and had a worse outcome (P=0.002) than patients without it. Analysis comparing gene-expression profiling of a subset of tumors bearing 17q gain and those without suggest large-scale dosage effects and TP53 haploinsufficiency without any somatic TP53 mutation identified. Cell line-based cytogenetic studies revealed that 17q gain can be related to isochromosome 17 and/or to multiple translocations occurring around 17q breakpoints. Finally, LINE-1 methylation was lower in tRCC tumors from adults compared with tumors from young patients (71.1% vs. 76.7%; P=0.02).
conclusionsOur results reveal genomic heterogeneity of tRCC with similarities to other renal tumor subtypes and raise important questions about the role of TFEB/TFE3 translocations and other chromosomal imbalances in tRCC biology.
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