| H00021 | |
| H番号 | 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 疾患パスウェイ hsa05211 腎細胞癌 |
| ネットワーク | nt06264 Renal cell carcinoma nt06504(H00021) Base excision repair |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 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] |
| コメント | - |
| 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 PMID:16339096 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 PMID:15380513 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 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 PMID:19233641 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 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 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) 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 |