KEGG   DISEASE: 神経芽腫
エントリ  
H00043                                                             
名称    
神経芽腫;
神経芽細胞腫
概要    
Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, and have a poor long-term survival rate of approximately 30%.
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  眼、脳および中枢神経系のがん
   H00043  神経芽腫
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  脳または中枢神経系の腫瘍
   2A02  脊髄, 脳神経, 中枢神経系の残りの部分の原発性腫瘍
    H00043  神経芽腫
  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
    中耳, 呼吸器または胸腔内臓器の悪性腫瘍
     2C20  鼻腔の悪性腫瘍
      H00043  神経芽腫
関連パスウェイ
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa04722  Neurotrophin signaling pathway
病因遺伝子 
MYCN (normal/amplified) [HSA:4613] [KO:K09109]
NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
(NBLST1) KIF1B [HSA:23095] [KO:K10392]
(NBLST2) PHOX2B [HSA:8929] [KO:K09330]
(NBLST3) ALK [HSA:238] [KO:K05119]
治療薬   
フィルグラスチム [DR:D03235]
シクロホスファミド水和物 [DR:D00287]
イホスファミド [DR:D00343]
ブスルファン [DR:D00248]
ドキソルビシン塩酸塩 [DR:D01275]
ビンクリスチン硫酸塩 [DR:D02197]
エトポシド [DR:D00125]
ジヌツキシマブ [DR:D10559]
シスプラチン [DR:D00275]
カルボプラチン [DR:D01363]
テセロイキン [DR:D02749]
リンク   
ICD-11: 2A02.1 2C20.3
ICD-10: C38 C47 C48 C72 C74 C76
MeSH: D009447
OMIM: 256700 613013 613014
文献    
PMID:12612655 (MYCN, NTRK1/2/3)
  著者
Brodeur GM.
  タイトル
Neuroblastoma: biological insights into a clinical enigma.
  雑誌
Nat Rev Cancer 3:203-16 (2003)
DOI:10.1038/nrc1014
文献    
  著者
van Noesel MM, Versteeg R.
  タイトル
Pediatric neuroblastomas: genetic and epigenetic 'danse macabre'.
  雑誌
Gene 325:1-15 (2004)
DOI:10.1016/j.gene.2003.09.042
文献    
PMID:18334619 (KIF1B)
  著者
Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr
  タイトル
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.
  雑誌
Genes Dev 22:884-93 (2008)
DOI:10.1101/gad.1648608
文献    
PMID:15024693 (PHOX2B)
  著者
Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J
  タイトル
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
  雑誌
Am J Hum Genet 74:761-4 (2004)
DOI:10.1086/383253
文献    
PMID:18724359 (ALK)
  著者
Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM
  タイトル
Identification of ALK as a major familial neuroblastoma predisposition gene.
  雑誌
Nature 455:930-5 (2008)
DOI:10.1038/nature07261
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