ArticleCancer science2020
Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.
Article in Cancer science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Epigenomic regulation of neural crest differentiation in human-induced pluripotent stem cells.iScience · 2026Article
- Acquired cystic disease-associated renal cell carcinoma: a case report.Annals of medicine and surgery (2012) · 2026Article
- Association Between Renal Cell Cancer and Chronic Kidney Disease: An Update on a Never-Healing Wound.Biomedicines · 2025Review
- HIFα isoform specific activities drive cell-type specificity of VHL-associated oncogenesis.Nature communications · 2025Article
- Telomere Length and Clear Cell Renal Cell Carcinoma: Unraveling Causal Mechanisms Through Integrative Genetic and Single-Cell Transcriptomic Analysis.Mediators of inflammation · 2025Article
- Epigenetic disruption of adipogenic gene enhancers in dedifferentiated liposarcomas and its therapeutic value.Frontiers in oncology · 2025Article
- Radiogenomics Pilot Study: Association Between Radiomics and Single Nucleotide Polymorphism-Based Microarray Copy Number Variation in Diagnosing Renal Oncocytoma and Chromophobe Renal Cell Carcinoma.International journal of molecular sciences · 2024Article
- Contemporary review of papillary renal cell carcinoma-current state and future directions.Virchows Archiv : an international journal of pathology · 2024Review
- Outcome of advanced renal cell carcinoma arising in end-stage renal disease: comparison with sporadic renal cell carcinoma.Clinical and experimental nephrology · 2021Article
- Anti-tumor efficacy of human anti-c-met CAR-T cells against papillary renal cell carcinoma in an orthotopic model.Cancer science · 2021Article
- Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.Cancer science · 2020Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
End-stage renal disease (ESRD) patients on dialysis therapy have a higher incidence of renal cell carcinomas (RCCs), which consist of 2 major histopathological types: clear-cell RCCs (ESRD-ccRCCs) and acquired cystic disease (ACD)-associated RCCs. However, their genetic and epigenetic alterations are still poorly understood. Here, we investigated somatic mutations, copy number alterations (CNAs), and DNA methylation profiles in 9 ESRD-ccRCCs and 7 ACD-associated RCCs to identify their molecular alterations and cellular origins. Targeted sequencing of 409 cancer-related genes, including VHL, PBRM1, SETD2, BAP1, KDM5C, MET, KMT2C (MLL3), and TP53, showed ESRD-ccRCCs harbored frequent VHL mutations, while ACD-associated RCCs did not. CNA analysis showed that ESRD-ccRCCs had a frequent loss of chromosome 3p while ACD-associated RCCs had a gain of chromosome 16. Beadarray methylation analysis showed that ESRD-ccRCCs had methylation profiles similar to those of sporadic ccRCCs, while ACD-associated RCCs had profiles similar to those of papillary RCCs. Expression analysis of genes whose expression levels are characteristic to individual segments of a nephron showed that ESRD-ccRCCs and ACD-associated RCCs had high expression of proximal tubule cell marker genes, while chromophobe RCCs had high expression of distal tubule cell/collecting duct cell marker genes. In conclusion, ESRD-ccRCCs and ACD-associated RCCs had mutation and methylation profiles similar to those of sporadic ccRCCs and papillary RCCs, respectively, and these 2 histopathological types of RCCs were indicated to have originated from proximal tubule cells of the nephron.
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