KEGG   DISEASE: 神経膠腫
エントリ  
H00042                                                             
名称    
神経膠腫
  上位グループ
固形腫瘍 [DS:H02421]
概要    
Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating astrocytoma - glioblastoma multiforme (GBM) - is one of the most aggressive human cancers. GBM may develop de novo (primary glioblastoma) or by progression from low-grade or anaplastic astrocytoma (secondary glioblastoma). Primary glioblastomas develop in older patients and typically show genetic alterations (EGFR amplification, p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glioblastomas develop in younger patients and frequently show overexpression of PDGF and CDK4 as well as p53 mutations (65%) and loss of Rb playing major roles in such transformations. Loss of PTEN has been implicated in both pathways, although it is much more common in the pathogenesis of primary GBM.
カテゴリ  
がん
階層分類  
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
   2A00  脳の原発性腫瘍
    H00042  神経膠腫
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06526  MAPK シグナリング
   H00042  神経膠腫
  nt06528  カルシウムシグナリング
   H00042  神経膠腫
疾患パスウェイ
hsa05214  神経膠腫
パスウェイ 
hsa04020  Calcium signaling pathway
ネットワーク
nt06273 Glioma
nt06528 Calcium signaling
病因遺伝子 
(GLM1) IDH1 [HSA:3417] [KO:K00031]
(GLM1) TP53 [HSA:7157] [KO:K04451]
(GLM1) ERBB2 [HSA:2064] [KO:K05083]
(GLM2) PTEN [HSA:5728] [KO:K01110]
(GLM3) BRCA2 [HSA:675] [KO:K08775]
(GLM9) POT1 [HSA:25913] [KO:K11109]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643]
CDK4 (amplification) [HSA:1019] [KO:K02089]
PDGFA (overexpression) [HSA:5154] [KO:K04359]
PDGFB (overexpression) [HSA:5155] [KO:K17386]
PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363]
PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
治療薬   
カルムスチン [DR:D00254]
テモゾロミド [DR:D06067]
ブレオマイシン塩酸塩 [DR:D03229]
ビンクリスチン硫酸塩 [DR:D02197]
ベバシズマブ [DR:D06409]
プロカルバジン塩酸塩 [DR:D00478]
アミノレブリン酸塩酸塩 [DR:D02908]
リンク   
ICD-11: 2A00.0
ICD-10: C71
MeSH: D005910
OMIM: 137800 613028 613029 615848
文献    
  著者
Soni D, King JA, Kaye AH, Hovens CM.
  タイトル
Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge.
  雑誌
J Clin Neurosci 12:1-5 (2005)
DOI:10.1016/j.jocn.2004.04.001
文献    
  著者
Holland EC.
  タイトル
Gliomagenesis: genetic alterations and mouse models.
  雑誌
Nat Rev Genet 2:120-9 (2001)
DOI:10.1038/35052535
文献    
  著者
Zhu Y, Parada LF.
  タイトル
The molecular and genetic basis of neurological tumours.
  雑誌
Nat Rev Cancer 2:616-26 (2002)
DOI:10.1038/nrc866
文献    
PMID:26700815 (IDH1)
  著者
Flavahan WA, Drier Y, Liau BB, Gillespie SM, Venteicher AS, Stemmer-Rachamimov AO, Suva ML, Bernstein BE
  タイトル
Insulator dysfunction and oncogene activation in IDH mutant gliomas.
  雑誌
Nature 529:110-4 (2016)
DOI:10.1038/nature16490
文献    
PMID:18948956 (TP53)
  著者
Zheng H, Ying H, Yan H, Kimmelman AC, Hiller DJ, Chen AJ, Perry SR, Tonon G, Chu GC, Ding Z, Stommel JM, Dunn KL, Wiedemeyer R, You MJ, Brennan C, Wang YA, Ligon KL, Wong WH, Chin L, DePinho RA
  タイトル
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation.
  雑誌
Nature 455:1129-33 (2008)
DOI:10.1038/nature07443
文献    
PMID:33640859 (ERBB2)
  著者
Mei J, Wang T, Xu R, Chen D, Zhang Y
  タイトル
Clinical and molecular immune characterization of ERBB2 in glioma.
  雑誌
Int Immunopharmacol 94:107499 (2021)
DOI:10.1016/j.intimp.2021.107499
文献    
PMID:12085208 (PTEN)
  著者
Staal FJ, van der Luijt RB, Baert MR, van Drunen J, van Bakel H, Peters E, de Valk I, van Amstel HK, Taphoorn MJ, Jansen GH, van Veelen CW, Burgering B, Staal GE
  タイトル
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
  雑誌
Br J Cancer 86:1586-91 (2002)
DOI:10.1038/sj.bjc.6600206
文献    
PMID:15689453 (BRCA2)
  著者
Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
  タイトル
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
  雑誌
J Med Genet 42:147-51 (2005)
DOI:10.1136/jmg.2004.022673
文献    
PMID:25482530 (POT1)
  著者
Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML
  タイトル
Germline mutations in shelterin complex genes are associated with familial glioma.
  雑誌
J Natl Cancer Inst 107:384 (2015)
DOI:10.1093/jnci/dju384
文献    
PMID:23777544 (EGFR)
  著者
Gan HK, Cvrljevic AN, Johns TG
  タイトル
The epidermal growth factor receptor variant III (EGFRvIII): where wild things are altered.
  雑誌
FEBS J 280:5350-70 (2013)
DOI:10.1111/febs.12393
LinkDB    

» English version

DBGET integrated database retrieval system