Type 2 papillary renal cell carcinoma (WP4241)

Homo sapiens

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Renal cell carcinoma (RCC), the most common form of kidney cancer in adults, is not a single disease but rather a collection of different tumor types driven by distinct genetic changes that arise within the same tissue. Papillary RCC represents 15 to 20 percent of RCC diagnoses and can manifest as an aggressive, solitary tumor or as multiple, slow-growing tumors. Papillary RCC itself has two main subtypes, type 1 and type 2, that are distinguished histologically. Little is currently known about the genetic basis of non-hereditary papillary RCC and patients receive treatment simply based on disease stage. If caught early, the disease can usually be cured surgically. From https://ccr.cancer.gov/news/article/understanding-papillary-renal-cell-carcinoma Based on [http://www.genome.jp/kegg-bin/show_pathway?hsa05211 KEGG]

Authors

Kristina Hanspers , Alex Pico , Egon Willighagen , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

CPTAC Diseases Renal Genomics Pathways

Annotations

Disease Ontology

papillary renal cell carcinoma

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
oxygen Metabolite chebi:25805
Fumarate Metabolite chebi:18012
L-malate Metabolite chebi:15589
FH GeneProduct ensembl:ENSG00000091483
EPAS1 GeneProduct ensembl:ENSG00000116016
SETD2 GeneProduct ensembl:ENSG00000181555
TFE3 GeneProduct ensembl:ENSG00000068323
PRCC GeneProduct ensembl:ENSG00000143294
CDKN1A GeneProduct ensembl:ENSG00000124762
TFE3 GeneProduct ensembl:ENSG00000068323
SFPQ GeneProduct ensembl:ENSG00000116560
TFE3 GeneProduct ensembl:ENSG00000068323
DVL2 GeneProduct ensembl:ENSG00000004975
CTSK GeneProduct ensembl:ENSG00000143387
BIRC7 GeneProduct ensembl:ENSG00000101197
DIAPH1 GeneProduct ensembl:ENSG00000131504
HIF1A GeneProduct ensembl:ENSG00000100644
CTSK GeneProduct ensembl:ENSG00000143387
TFEB GeneProduct ensembl:ENSG00000112561
TFEB GeneProduct ensembl:ENSG00000112561
COL21A1 GeneProduct ensembl:ENSG00000124749
CADM2 GeneProduct ensembl:ENSG00000175161
HIF1A GeneProduct ensembl:ENSG00000100644
EGLN1 GeneProduct ensembl:ENSG00000135766
EGLN2 GeneProduct ensembl:ENSG00000269858
EGLN3 GeneProduct ensembl:ENSG00000129521
ELOC GeneProduct ensembl:ENSG00000154582
ELOB GeneProduct ensembl:ENSG00000103363
VHL GeneProduct ensembl:ENSG00000134086
RBX1 GeneProduct ensembl:ENSG00000100387
CUL2 GeneProduct ensembl:ENSG00000108094
ARNT GeneProduct ensembl:ENSG00000143437
ARNT2 GeneProduct ensembl:ENSG00000172379
CREBBP GeneProduct ensembl:ENSG00000005339
EP300 GeneProduct ensembl:ENSG00000100393
SLC2A1 GeneProduct ensembl:ENSG00000117394
VEGFA GeneProduct ensembl:ENSG00000112715
TGFB1 GeneProduct ensembl:ENSG00000105329
TGFB2 GeneProduct ensembl:ENSG00000092969
TGFB3 GeneProduct ensembl:ENSG00000119699
PDGFB GeneProduct ensembl:ENSG00000100311
TGFA GeneProduct ensembl:ENSG00000163235

References

  1. PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors. Skalsky YM, Ajuh PM, Parker C, Lamond AI, Goodwin G, Cooper CS. Oncogene. 2001 Jan 11;20(2):178–87. PubMed Europe PMC Scholia
  2. HIF and fumarate hydratase in renal cancer. Sudarshan S, Linehan WM, Neckers L. Br J Cancer. 2007 Feb 12;96(3):403–7. PubMed Europe PMC Scholia
  3. The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay. Medendorp K, van Groningen JJM, Vreede L, Hetterschijt L, Brugmans L, van den Hurk WH, et al. Exp Cell Res. 2009 Aug 15;315(14):2399–409. PubMed Europe PMC Scholia
  4. Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers. Kauffman EC, Ricketts CJ, Rais-Bahrami S, Yang Y, Merino MJ, Bottaro DP, et al. Nat Rev Urol. 2014 Aug;11(8):465–75. PubMed Europe PMC Scholia
  5. Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. Cancer Genome Atlas Research Network, Linehan WM, Spellman PT, Ricketts CJ, Creighton CJ, Fei SS, et al. N Engl J Med. 2016 Jan 14;374(2):135–45. PubMed Europe PMC Scholia