KEGG   DISEASE: Renal cell carcinoma
Entry
H00021                      Disease                                
Name
Renal cell carcinoma
Description
Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of the urinary system
   H00021  Renal cell carcinoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of urinary tract
     2C90  Malignant neoplasms of kidney, except renal pelvis
      H00021  Renal cell carcinoma
Cancer-associated carbohydrates [br08441.html]
 H00021
Pathway
hsa05211  Renal cell carcinoma
Network
nt06264  Renal cell carcinoma
nt06504  Base excision repair
Gene
PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
HNF1A [HSA:6927] [KO:K08036]
OGG1 [HSA:4968] [KO:K03660]
PBRM1 [HSA:55193] [KO:K11757]
Drug
Medroxyprogesterone acetate [DR:D00951]
Temsirolimus [DR:D06068]
Everolimus [DR:D02714]
Axitinib [DR:D03218]
Tivozanib hydrochloride [DR:D10190]
Sunitinib malate [DR:D06402]
Sorafenib tosylate [DR:D06272]
Pazopanib hydrochloride [DR:D05380]
Cabozantinib s-malate [DR:D10095]
Lenvatinib mesylate [DR:D09920]
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574]
Avelumab [DR:D10817]
Bevacizumab [DR:D06409]
Ipilimumab [DR:D04603] (MSI-H or dMMR)
Aldesleukin [DR:D00748]
Other DBs
ICD-11: 2C90.0
ICD-10: C64
MeSH: D002292
OMIM: 144700 300854 605074
Reference
PMID:15122209 (VHL, MET, FH, FLCN)
  Authors
Pavlovich CP, Schmidt LS.
  Title
Searching for the hereditary causes of renal-cell carcinoma.
  Journal
Nat Rev Cancer 4:381-93 (2004)
DOI:10.1038/nrc1364
Reference
  Authors
Cohen HT, McGovern FJ.
  Title
Renal-cell carcinoma.
  Journal
N Engl J Med 353:2477-90 (2005)
DOI:10.1056/NEJMra043172
Reference
  Authors
Linehan WM, Zbar B.
  Title
Focus on kidney cancer.
  Journal
Cancer Cell 6:223-8 (2004)
DOI:10.1016/j.ccr.2004.09.006
Reference
PMID:19406209 (PRCC-TFE3)
  Authors
Brenner JC, Chinnaiyan AM
  Title
Translocations in epithelial cancers.
  Journal
Biochim Biophys Acta 1796:201-15 (2009)
DOI:10.1016/j.bbcan.2009.04.005
Reference
  Authors
Prensner JR, Chinnaiyan AM
  Title
Oncogenic gene fusions in epithelial carcinomas.
  Journal
Curr Opin Genet Dev 19:82-91 (2009)
DOI:10.1016/j.gde.2008.11.008
Reference
PMID:15649945 (HNF1A)
  Authors
Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J
  Title
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
  Journal
Hum Mol Genet 14:603-14 (2005)
DOI:10.1093/hmg/ddi057
Reference
PMID:10987279 (OGG1)
  Authors
Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP
  Title
Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney.
  Journal
Cancer Res 60:4740-4 (2000)
Reference
PMID:29301960 (PBRM1)
  Authors
Miao D, Margolis CA, Gao W, Voss MH, Li W, Martini DJ, Norton C, Bosse D, Wankowicz SM, Cullen D, Horak C, Wind-Rotolo M, Tracy A, Giannakis M, Hodi FS, Drake CG, Ball MW, Allaf ME, Snyder A, Hellmann MD, Ho T, Motzer RJ, Signoretti S, Kaelin WG Jr, Choueiri TK, Van Allen EM
  Title
Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma.
  Journal
Science 359:801-806 (2018)
DOI:10.1126/science.aan5951
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