| H00042 | |
| H番号 | H00042 |
| 名称 | 神経膠腫 |
| 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 疾患パスウェイ hsa05214 神経膠腫 |
| ネットワーク | nt06273 Glioma nt06528(H00042) 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 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] |
| コメント | - |
| リンク | ICD-11: 2A00.0 ICD-10: C71 MeSH: D005910 OMIM: 137800 613028 613029 616568 |
| 文献 | PMID:15639402 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 PMID:11253051 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 PMID:12154354 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 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 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 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 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 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 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 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 |