KEGG   DISEASE: Renal cell carcinomaHelp
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-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  C64-C68  Malignant neoplasms of urinary tract
   C64  Malignant neoplasm of kidney, except renal pelvis
    H00021  Renal cell carcinoma
Cancer-accociated carbohydrates [br08441.html]
 H00021
BRITE hierarchy
Pathway
Renal cell carcinoma
Transcriptional misregulation in cancer
Network
N00005  
Mutation-activated MET to RAS-ERK signaling pathway
N00044  
Mutation-activated MET to PI3K signaling pathway
N00080  
Loss of VHL to HIF-1 signaling pathway
N00081  
Mutation-inactivated VHL to HIF-1 signaling pathway
N00127  
PRCC-TFE3 fusion to transcriptional activation
Gene
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]
BHD (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
PRCC-TFE3 (translocation) [HSA:7030] [KO:K09105]
Carcinogen
Aluminium production
Cadmium and cadmium compounds
Chimney sweeping
Radium-224 and its decay products
Shale-oils
Tobacco smoking and tobacco smoke
Drug
Bevacizumab [DR:D06409]
Nivolumab [DR:D10316]
Sunitinib malate [DR:D06402]
Sorafenib tosylate [DR:D06272]
Temsirolimus [DR:D06068]
Everolimus [DR:D02714]
Pazopanib hydrochloride [DR:D05380]
Axitinib [DR:D03218]
Cabozantinib s-malate [DR:D10095]
Lenvatinib mesylate [DR:D09920]
Aldesleukin [DR:D00748]
Comment
ICD-O: 8310/3, Tumor type: Clear cell carcinoma
ICD-O: 8260/3, Tumor type: Papillary renal cell carcinoma
ICD-O: 8317/3, Tumor type: Chromophobe renal cell carcinoma
ICD-O: 8290/0, Tumor type: Oncocytoma
ICD-O: 8319/3, Tumor type: Carcinoma of the collecting ducts of Bellini
Other DBs
ICD-10: 
MeSH: 
Reference
PMID:15122209 (gene, tumor type)
  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
PMID:16339096 (gene)
  Authors
Cohen HT, McGovern FJ.
  Title
Renal-cell carcinoma.
  Journal
N Engl J Med 353:2477-90 (2005)
DOI:10.1056/NEJMra043172
Reference
PMID:15380513 (gene)
  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
  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:9498904 (carcinogen)
  Authors
Boffetta P, Jourenkova N, Gustavsson P.
  Title
Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
  Journal
Cancer Causes Control 8:444-72 (1997)
Reference
PMID:15660110 (carcinogen)
  Authors
Luch A.
  Title
Nature and nurture - lessons from chemical carcinogenesis.
  Journal
Nat Rev Cancer 5:113-25 (2005)
DOI:10.1038/nrc1546
Reference
PMID:16102569 (carcinogen)
  Authors
Il'yasova D, Schwartz GG.
  Title
Cadmium and renal cancer.
  Journal
Toxicol Appl Pharmacol 207:179-86 (2005)
DOI:10.1016/j.taap.2004.12.005
Reference
PMID:10564925 (carcinogen)
  Authors
Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
  Title
Malignancies in patients treated with high doses of radium-224.
  Journal
Radiat Res 152:S3-7 (1999)
DOI:10.2307/3580102
Reference
PMID:15552776 (carcinogen)
  Authors
Sasco AJ, Secretan MB, Straif K.
  Title
Tobacco smoking and cancer: a brief review of recent epidemiological evidence.
  Journal
Lung Cancer 45 Suppl 2:S3-9 (2004)
DOI:10.1016/j.lungcan.2004.07.998
Reference
PMID:15821467 (marker)
  Authors
Kim HL, Seligson D, Liu X, Janzen N, Bui MH, Yu H, Shi T, Belldegrun AS, Horvath S, Figlin RA.
  Title
Using tumor markers to predict the survival of patients with metastatic renal cell carcinoma.
  Journal
J Urol 173:1496-501 (2005)
DOI:10.1097/01.ju.0000154351.37249.f0
Reference
PMID:16194700 (marker)
  Authors
Lam JS, Leppert JT, Figlin RA, Belldegrun AS.
  Title
Role of molecular markers in the diagnosis and therapy of renal cell carcinoma.
  Journal
Urology 66:1-9 (2005)
DOI:10.1016/j.urology.2005.06.112
Reference
PMID:12681265 (marker)
  Authors
Michael A, Pandha HS.
  Title
Renal-cell carcinoma: tumour markers, T-cell epitopes, and potential for new therapies.
  Journal
Lancet Oncol 4:215-23 (2003)
DOI:10.1016/S1470-2045(03)01044-1
Reference
(drug)
  Authors
Papadakis MA and McPhee SJ |(ed)
  Title
Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
  Journal
McGraw Hill Education
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