Human Gene Set: ZHANG_FH_DEFICIENT_RCC_TUMOR_VS_NORMAL_DN


Standard name ZHANG_FH_DEFICIENT_RCC_TUMOR_VS_NORMAL_DN
Systematic name M49271
Brief description Genes downregulated in FH-deficient RCC tumors compared to adjacent normal tissues.
Full description or abstract Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare yet highly lethal kidney cancer. To deepen understanding of FH-deficient RCC, the authors conduct a comprehensive integrated genomic study. The authors analyze the association of FH alteration patterns with tumor heterogeneity and develop a CpG site-specific methylation signature for precise identification of FH-deficient RCC. Transcriptomic analysis unveils three distinctive molecular subtypes characterized by enrichment of immune/Angiogenic/Stromal (C1), WNT/Notch/MAPK (C2), and proliferation/stemness (C3) pathways, respectively. Tumors in C1 derive the most substantial survival benefit from a combination of immune checkpoint blockade (ICB) and anti-angiogenic therapy. Tumors in C2 display moderate response to this therapeutic approach. In contrast, tumors in C3 exhibit an unfavorable response to anti-angiogenic monotherapy and its combination with ICB. These findings contribute to a profound understanding of the aggressive nature of FH-deficient RCC, offering insights into potential precision medicine approaches for disease management.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 40355427   Authors: Zhang X,Zhao J,Yin X,Liang J,Wang Y,Zheng L,Tan P,Lin Y,Xu N,Zhu S,Chen J,Zhao J,Hu X,Pan X,Nie L,Zhang M,Chen Y,Zhang Y,Liu H,Dai J,Wang Z,Liu H,Ni Y,Rupp NJ,Moch H,Sheng X,Gong K,Liu X,Chen Z,He Z,Wang Y,Xu L,Liu M,Zhou H,Tang B,Huang R,Wei Q,Li X,Liu J,Yao J,Liao B,Liu Z,Shen P,Chen N,Zeng H,Sun G
Exact source Table S9 Absolute Log2FC>2;Padj<0.01 41467_2025_59513_MOESM11_ESM
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External links https://www.nature.com/articles/s41467-025-59513-8
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Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
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identifier namespace		 Human_Ensembl_Gene_ID
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