ArticleGenome medicine2023
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma.
Article in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 30 citations in OpenAlex.
- Sintilimab Plus Axitinib for Advanced Fumarate Hydratase-Deficient Renal Cell Carcinoma: A Phase 2 Nonrandomized Clinical Trial.JAMA oncology · 2025Trial
- Fumarate hydratase ameliorates pressure overload induced cardiac remodeling by controlling Elovl7-mediated biosynthesis of unsaturated fatty acids.Acta pharmacologica Sinica · 2026Article
- Fumarate activates the IL-6/JAK/STAT3 pathway by inhibiting KDM4C-mediated H3K36me3 demethylation in FH-knockdown renal cancer cells.British journal of cancer · 2025Article
- AI-assisted diagnosis of renal cell carcinoma: educational needs and cognitive assessment based on the WHO classification 2022.BMC medical education · 2025Article
- Neoantigen-driven personalized tumor therapy: An update from discovery to clinical application.Chinese medical journal · 2025Review
- Comprehensive molecular profiling of FH-deficient renal cell carcinoma identifies molecular subtypes and potential therapeutic targets.Nature communications · 2025Article
- Comparison of characteristics and immune responses between paired human nasal and bronchial epithelial organoids.Cell & bioscience · 2025Article
- Fumarate hydratase-deficient renal cell carcinoma with sarcomatoid features: a case report.AME case reports · 2025Article
- Cellular Heterogeneity and IL-17 Pathway Dynamics Reveal Insights into the Transition from Ulcerative Colitis to Colorectal Cancer Through scRNA-Seq Analysis.Journal of inflammation research · 2025Article
- Recent progress in non-clear cell renal cell carcinoma: biology and therapeutic strategies.Therapeutic advances in medical oncology · 2025Review
- A rare case of FH-deficient renal cell carcinoma with signet ring cells features.Diagnostic pathology · 2024Article
- NAPRT Silencing in FH-Deficient Renal Cell Carcinoma Confers Therapeutic Vulnerabilities via NAD+ Depletion.Molecular cancer research : MCR · 2024Article
- Article
- Fumarate hydratase-deficient renal cell carcinoma complicated with liver metastasis: case report.Frontiers in surgery · 2024Article
- Fumarate hydratase (FH) and cancer: a paradigm of oncometabolism.British journal of cancer · 2023Review
- Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma.Genome medicine · 2023Article
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Authors and funding
30 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare highly aggressive subtype of kidney cancer for which the distinct genomic, transcriptomic, and evolutionary relationships between metastatic and primary lesions are still unclear.
methodsIn this study, whole-exome, RNA-seq, and DNA methylation sequencing were performed on primary-metastatic paired specimens from 19 FH-RCC cases, including 23 primary and 35 matched metastatic lesions. Phylogenetic and clonal evolutionary analyses were used to investigate the evolutionary characteristics of FH-RCC. Transcriptomic analyses, immunohistochemistry, and multiple immunofluorescence experiments were performed to identify the tumor microenvironmental features of metastatic lesions.
resultsPaired primary and metastatic lesions generally showed similar characteristics of tumor mutation burden, tumor neoantigen burden, microsatellite instability score, CNV burden, and genome instability index. Notably, we identified an FH-mutated founding MRCA (the most recent common ancestor) clone that dominated the early evolutionary trajectories in FH-RCC. Although both primary and metastatic lesions manifested high immunogenicity, metastatic lesions exhibited higher enrichment of T effector cells and immune-related chemokines, together with upregulation of PD-L1, TIGIT, and BTLA. In addition, we found that concurrent NF2 mutation may be associated with bone metastasis and upregulation of cell cycle signature in metastatic lesions. Furthermore, although in FH-RCC metastatic lesions in general shared similar CpG island methylator phenotype with primary lesions, we found metastatic lesions displaying hypomethylated chemokine and immune checkpoints related genomic loci.
conclusionsOverall, our study demonstrated the genomic, epigenomic, and transcriptomic features of metastatic lesions in FH-RCC and revealed their early evolutionary trajectory. These results provided multi-omics evidence portraying the progression of FH-RCC.
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