Human Gene Set: REQUENA_INTRAHEPATIC_CHOLANGIOCARCINOMA_MARKERS_UP


Standard name REQUENA_INTRAHEPATIC_CHOLANGIOCARCINOMA_MARKERS_UP
Systematic name M51097
Brief description Genes consistenly up-regulated in Intrahepatic Cholagiocarcinoma across independent datasets.
Full description or abstract Fibrolamellar carcinoma (FLC) is a liver cancer of adolescents and young adults characterized by increased PKA activity. We performed a multi-omics study of 1,412 tumor-normal paired liver samples from cohorts of patients with FLC, hepatoblastoma (HBL), intrahepatic cholangiocarcinoma (iCCA), and hepatocellular carcinoma (HCC), including ribosomal RNA-depleted whole-transcriptome RNA-seq samples sequenced on Illumina NextSeq and HiSeq platforms. Using differential expression analysis, we identified genes with a consistent variation trend across samples, defining the fibrolamellar carcinoma signature, hepatoblastoma signature, hepatocellular carcinoma signature, and the intrahepatic cholangiocarcinoma signature. Comparing these transcriptomic gene signatures, we identified genes consistently upregulated only in the iCCA signature and not in the other signatures. The top 47 genes with the largest fold changes and 100% consistency were designated as the intrahepatic cholangiocarcinoma markers up. Pathway enrichment analysis using GSEA, PADOG, and CAMERA confirmed that this gene set is consistently enriched across iCCA datasets, but not in FLC, HBL, or HCC.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 39738196   Authors: Requena D,Medico JA,Soto-Ugaldi LF,Shirani M,Saltsman JA 3rd,Torbenson MS,Coffino P,Simon SM
Exact source Supplementary Table 7. Transcriptomic signatures of HBL, iCCA, and HCC. dbGAP accession: phs003643.v1.p1
Related gene sets (show 4 additional gene sets from the source publication)
External links https://fibrolamellardatabase.org
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Source species Homo sapiens
Contributed by David Requena (The Rockefeller University)
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identifier namespace		 Human_Ensembl_Gene_ID
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Version history 2026.2.Hs: First Introduced.


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