KEGG   DISEASE: 腎細胞癌
エントリ  
H00021                                                             
名称    
腎細胞癌
概要    
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.
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  泌尿器系のがん
   H00021  腎細胞癌
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    腎尿路の悪性腫瘍
     2C90  腎盂を除く腎臓の悪性腫瘍
      H00021  腎細胞癌
パスウェイ 
hsa05211  腎細胞癌
関連パスウェイ
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
ネットワーク
nt06264  Renal cell carcinoma
病因遺伝子 
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]
発癌物質  
Aluminium production
Cadmium and cadmium compounds
Chimney sweeping
Radium-224 and its decay products
Shale-oils
Tobacco smoking and tobacco smoke
治療薬   
エベロリムス [DR:D02714]
テムシロリムス [DR:D06068]
アキシチニブ [DR:D03218]
スニチニブリンゴ酸塩 [DR:D06402]
ソラフェニブトシル酸塩 [DR:D06272]
パゾパニブ塩酸塩 [DR:D05380]
カボザンチニブリンゴ酸塩 [DR:D10095]
レンバチニブメシル酸塩 [DR:D09920]
ニボルマブ [DR:D10316]
ペムブロリズマブ [DR:D10574]
アベルマブ [DR:D10817]
イピリムマブ [DR:D04603]
インターフェロンアルファ (NAMALWA) [DR:D03305]
インターフェロンガンマ-1a [DR:D03357]
テセロイキン [DR:D02749]
リンク   
ICD-11: 2C90.0
ICD-10: C64
MeSH: D002292
OMIM: 144700 300854 605074
文献    
PMID:15122209 (VHL, MET, FH, FLCN)
  著者
Pavlovich CP, Schmidt LS.
  タイトル
Searching for the hereditary causes of renal-cell carcinoma.
  雑誌
Nat Rev Cancer 4:381-93 (2004)
DOI:10.1038/nrc1364
文献    
  著者
Cohen HT, McGovern FJ.
  タイトル
Renal-cell carcinoma.
  雑誌
N Engl J Med 353:2477-90 (2005)
DOI:10.1056/NEJMra043172
文献    
  著者
Linehan WM, Zbar B.
  タイトル
Focus on kidney cancer.
  雑誌
Cancer Cell 6:223-8 (2004)
DOI:10.1016/j.ccr.2004.09.006
文献    
PMID:19406209 (PRCC-TFE3)
  著者
Brenner JC, Chinnaiyan AM
  タイトル
Translocations in epithelial cancers.
  雑誌
Biochim Biophys Acta 1796:201-15 (2009)
DOI:10.1016/j.bbcan.2009.04.005
文献    
  著者
Prensner JR, Chinnaiyan AM
  タイトル
Oncogenic gene fusions in epithelial carcinomas.
  雑誌
Curr Opin Genet Dev 19:82-91 (2009)
DOI:10.1016/j.gde.2008.11.008
文献    
PMID:15649945 (HNF1A)
  著者
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
  タイトル
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
  雑誌
Hum Mol Genet 14:603-14 (2005)
DOI:10.1093/hmg/ddi057
文献    
PMID:10987279 (OGG1)
  著者
Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP
  タイトル
Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney.
  雑誌
Cancer Res 60:4740-4 (2000)
文献    
PMID:29301960 (PBRM1)
  著者
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
  タイトル
Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma.
  雑誌
Science 359:801-806 (2018)
DOI:10.1126/science.aan5951
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