KEGG   DISEASE: Glioma
Entry
H00042                      Disease                                
Name
Glioma
  Supergrp
Solid tumor [DS:H02421]
Description
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.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of eye, brain, and central nervous system
   H00042  Glioma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of brain or central nervous system
   2A00  Primary neoplasms of brain
    H00042  Glioma
Cancer-associated carbohydrates [br08441.html]
 H00042
Pathway
hsa05214  Glioma
Related
pathway
hsa04151  PI3K-Akt signaling pathway
Network
nt06273  Glioma
Gene
(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]
Drug
Carmustine [DR:D00254]
Temozolomide [DR:D06067]
Bevacizumab [DR:D06409]
Aminolevulinic acid hydrochloride [DR:D02908]
Other DBs
ICD-11: 2A00.0
ICD-10: C71
MeSH: D005910
OMIM: 137800 613028 613029 616568
Reference
  Authors
Soni D, King JA, Kaye AH, Hovens CM.
  Title
Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge.
  Journal
J Clin Neurosci 12:1-5 (2005)
DOI:10.1016/j.jocn.2004.04.001
Reference
  Authors
Holland EC.
  Title
Gliomagenesis: genetic alterations and mouse models.
  Journal
Nat Rev Genet 2:120-9 (2001)
DOI:10.1038/35052535
Reference
  Authors
Zhu Y, Parada LF.
  Title
The molecular and genetic basis of neurological tumours.
  Journal
Nat Rev Cancer 2:616-26 (2002)
DOI:10.1038/nrc866
Reference
PMID:26700815 (IDH1)
  Authors
Flavahan WA, Drier Y, Liau BB, Gillespie SM, Venteicher AS, Stemmer-Rachamimov AO, Suva ML, Bernstein BE
  Title
Insulator dysfunction and oncogene activation in IDH mutant gliomas.
  Journal
Nature 529:110-4 (2016)
DOI:10.1038/nature16490
Reference
PMID:18948956 (TP53)
  Authors
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
  Title
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation.
  Journal
Nature 455:1129-33 (2008)
DOI:10.1038/nature07443
Reference
PMID:33640859 (ERBB2)
  Authors
Mei J, Wang T, Xu R, Chen D, Zhang Y
  Title
Clinical and molecular immune characterization of ERBB2 in glioma.
  Journal
Int Immunopharmacol 94:107499 (2021)
DOI:10.1016/j.intimp.2021.107499
Reference
PMID:12085208 (PTEN)
  Authors
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
  Title
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
  Journal
Br J Cancer 86:1586-91 (2002)
DOI:10.1038/sj.bjc.6600206
Reference
PMID:15689453 (BRCA2)
  Authors
Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N
  Title
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
  Journal
J Med Genet 42:147-51 (2005)
DOI:10.1136/jmg.2004.022673
Reference
PMID:25482530 (POT1)
  Authors
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
  Title
Germline mutations in shelterin complex genes are associated with familial glioma.
  Journal
J Natl Cancer Inst 107:384 (2015)
DOI:10.1093/jnci/dju384
Reference
PMID:23777544 (EGFR)
  Authors
Gan HK, Cvrljevic AN, Johns TG
  Title
The epidermal growth factor receptor variant III (EGFRvIII): where wild things are altered.
  Journal
FEBS J 280:5350-70 (2013)
DOI:10.1111/febs.12393
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