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Glioblastoma multiforme(GBM)

MedGen UID:
301585
Concept ID:
C1621958
Neoplastic Process
Synonym: GBM
SNOMED CT: Glioblastoma multiforme (393563007); Spongioblastoma multiforme (1163375002); Glioblastoma multiforme (1163375002); Glioblastoma (1163375002); GBM - glioblastoma multiforme (1163375002); GLM - glioblastoma multiforme (1163375002); Malignant glioblastoma (1163375002)
 
HPO: HP:0012174
OMIM®: 137800

Definition

A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlioblastoma multiforme

Conditions with this feature

Glioma susceptibility 1
MedGen UID:
413414
Concept ID:
C2750850
Finding
Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and neurofibromatosis-2 (see SWNV, 101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q13; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.
Glioma susceptibility 3
MedGen UID:
442777
Concept ID:
C2751641
Finding
Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.
Mismatch repair cancer syndrome 1
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Mismatch repair cancer syndrome 2
MedGen UID:
1750327
Concept ID:
C5436806
Disease or Syndrome
Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300).
Mismatch repair cancer syndrome 3
MedGen UID:
1733656
Concept ID:
C5436807
Disease or Syndrome
Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).
Mismatch repair cancer syndrome 4
MedGen UID:
1745382
Concept ID:
C5436817
Disease or Syndrome
Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).

Professional guidelines

PubMed

Czarnywojtek A, Borowska M, Dyrka K, Van Gool S, Sawicka-Gutaj N, Moskal J, Kościński J, Graczyk P, Hałas T, Lewandowska AM, Czepczyński R, Ruchała M
Pharmacology 2023;108(5):423-431. Epub 2023 Jul 17 doi: 10.1159/000531319. PMID: 37459849
Batash R, Asna N, Schaffer P, Francis N, Schaffer M
Curr Med Chem 2017;24(27):3002-3009. doi: 10.2174/0929867324666170516123206. PMID: 28521700
Alifieris C, Trafalis DT
Pharmacol Ther 2015 Aug;152:63-82. Epub 2015 May 2 doi: 10.1016/j.pharmthera.2015.05.005. PMID: 25944528

Recent clinical studies

Etiology

Ulasov I, Singh V, Laevskaya A, Timashev P, Kharwar RK
Discov Med 2023 Aug;35(177):458-475. doi: 10.24976/Discov.Med.202335177.47. PMID: 37553300
Goff KM, Zheng C, Alonso-Basanta M
Chin Clin Oncol 2022 Dec;11(6):46. doi: 10.21037/cco-22-92. PMID: 36632979
Zheng H, Yan T, Han Y, Wang Q, Zhang G, Zhang L, Zhu W, Xie L, Guo X
Clin Genet 2022 Nov;102(5):359-368. Epub 2022 Aug 1 doi: 10.1111/cge.14200. PMID: 35882630
De Felice F, Pranno N, Marampon F, Musio D, Salducci M, Polimeni A, Tombolini V
Crit Rev Oncol Hematol 2019 Jun;138:60-69. Epub 2019 Apr 4 doi: 10.1016/j.critrevonc.2019.03.019. PMID: 31092387
Witthayanuwat S, Pesee M, Supaadirek C, Supakalin N, Thamronganantasakul K, Krusun S
Asian Pac J Cancer Prev 2018 Sep 26;19(9):2613-2617. doi: 10.22034/APJCP.2018.19.9.2613. PMID: 30256068Free PMC Article

Diagnosis

Chandrasekar G, Bansal VS, Panigrahi M, Kitambi SS
J Cancer Res Ther 2022 Apr-Jun;18(3):591-598. doi: 10.4103/jcrt.jcrt_1324_21. PMID: 35900527
Salami R, Salami M, Mafi A, Vakili O, Asemi Z
Cell Commun Signal 2022 Jan 28;20(1):13. doi: 10.1186/s12964-021-00809-9. PMID: 35090496Free PMC Article
Witthayanuwat S, Pesee M, Supaadirek C, Supakalin N, Thamronganantasakul K, Krusun S
Asian Pac J Cancer Prev 2018 Sep 26;19(9):2613-2617. doi: 10.22034/APJCP.2018.19.9.2613. PMID: 30256068Free PMC Article
Batash R, Asna N, Schaffer P, Francis N, Schaffer M
Curr Med Chem 2017;24(27):3002-3009. doi: 10.2174/0929867324666170516123206. PMID: 28521700
Carlsson SK, Brothers SP, Wahlestedt C
EMBO Mol Med 2014 Nov;6(11):1359-70. doi: 10.15252/emmm.201302627. PMID: 25312641Free PMC Article

Therapy

Mihelson N, McGavern DB
Viruses 2021 Jun 29;13(7) doi: 10.3390/v13071264. PMID: 34209584Free PMC Article
Doherty GJ, de Paula BHR
Br J Cancer 2021 Apr;124(8):1341-1343. Epub 2021 Feb 24 doi: 10.1038/s41416-021-01265-5. PMID: 33623077Free PMC Article
Rominiyi O, Vanderlinden A, Clenton SJ, Bridgewater C, Al-Tamimi Y, Collis SJ
Br J Cancer 2021 Feb;124(4):697-709. Epub 2020 Nov 4 doi: 10.1038/s41416-020-01136-5. PMID: 33144698Free PMC Article
Mun EJ, Babiker HM, Weinberg U, Kirson ED, Von Hoff DD
Clin Cancer Res 2018 Jan 15;24(2):266-275. Epub 2017 Aug 1 doi: 10.1158/1078-0432.CCR-17-1117. PMID: 28765323
Roa W, Brasher PM, Bauman G, Anthes M, Bruera E, Chan A, Fisher B, Fulton D, Gulavita S, Hao C, Husain S, Murtha A, Petruk K, Stewart D, Tai P, Urtasun R, Cairncross JG, Forsyth P
J Clin Oncol 2004 May 1;22(9):1583-8. Epub 2004 Mar 29 doi: 10.1200/JCO.2004.06.082. PMID: 15051755

Prognosis

Chandrasekar G, Bansal VS, Panigrahi M, Kitambi SS
J Cancer Res Ther 2022 Apr-Jun;18(3):591-598. doi: 10.4103/jcrt.jcrt_1324_21. PMID: 35900527
Butler M, Prasad S, Srivastava SK
Adv Exp Med Biol 2020;1296:1-9. doi: 10.1007/978-3-030-59038-3_1. PMID: 34185283
Witthayanuwat S, Pesee M, Supaadirek C, Supakalin N, Thamronganantasakul K, Krusun S
Asian Pac J Cancer Prev 2018 Sep 26;19(9):2613-2617. doi: 10.22034/APJCP.2018.19.9.2613. PMID: 30256068Free PMC Article
Thakkar JP, Dolecek TA, Horbinski C, Ostrom QT, Lightner DD, Barnholtz-Sloan JS, Villano JL
Cancer Epidemiol Biomarkers Prev 2014 Oct;23(10):1985-96. Epub 2014 Jul 22 doi: 10.1158/1055-9965.EPI-14-0275. PMID: 25053711Free PMC Article
Henriksen M, Johnsen KB, Andersen HH, Pilgaard L, Duroux M
Mol Neurobiol 2014 Dec;50(3):896-913. Epub 2014 Mar 12 doi: 10.1007/s12035-014-8668-y. PMID: 24619503Free PMC Article

Clinical prediction guides

Zhao S, Chi H, Yang Q, Chen S, Wu C, Lai G, Xu K, Su K, Luo H, Peng G, Xia Z, Cheng C, Lu P
Front Immunol 2023;14:1090040. Epub 2023 Feb 7 doi: 10.3389/fimmu.2023.1090040. PMID: 36825022Free PMC Article
Zheng H, Yan T, Han Y, Wang Q, Zhang G, Zhang L, Zhu W, Xie L, Guo X
Clin Genet 2022 Nov;102(5):359-368. Epub 2022 Aug 1 doi: 10.1111/cge.14200. PMID: 35882630
Pearson JRD, Cuzzubbo S, McArthur S, Durrant LG, Adhikaree J, Tinsley CJ, Pockley AG, McArdle SEB
Front Immunol 2020;11:582106. Epub 2020 Oct 15 doi: 10.3389/fimmu.2020.582106. PMID: 33178210Free PMC Article
Witthayanuwat S, Pesee M, Supaadirek C, Supakalin N, Thamronganantasakul K, Krusun S
Asian Pac J Cancer Prev 2018 Sep 26;19(9):2613-2617. doi: 10.22034/APJCP.2018.19.9.2613. PMID: 30256068Free PMC Article
Roa W, Brasher PM, Bauman G, Anthes M, Bruera E, Chan A, Fisher B, Fulton D, Gulavita S, Hao C, Husain S, Murtha A, Petruk K, Stewart D, Tai P, Urtasun R, Cairncross JG, Forsyth P
J Clin Oncol 2004 May 1;22(9):1583-8. Epub 2004 Mar 29 doi: 10.1200/JCO.2004.06.082. PMID: 15051755

Recent systematic reviews

Araujo Moura AW, da Silva Rodrigues S, de Oliveira TF, Lobato BM, Pereira Cerize NN, Léo P
J Oncol Pharm Pract 2023 Oct;29(7):1736-1747. Epub 2023 Jul 28 doi: 10.1177/10781552231190104. PMID: 37503551
Kumari S, Gupta R, Ambasta RK, Kumar P
Biochim Biophys Acta Rev Cancer 2023 Jul;1878(4):188913. Epub 2023 May 12 doi: 10.1016/j.bbcan.2023.188913. PMID: 37182666
Wu W, Klockow JL, Zhang M, Lafortune F, Chang E, Jin L, Wu Y, Daldrup-Link HE
Pharmacol Res 2021 Sep;171:105780. Epub 2021 Jul 21 doi: 10.1016/j.phrs.2021.105780. PMID: 34302977Free PMC Article
Asmaa A, Dixit S, Rowland-Hill C, Achawal S, Rajaraman C, O'Reilly G, Highley R, Hussain M, Baker L, Gill L, Morris H, Hingorani M
Br J Radiol 2018 Jul;91(1088):20170271. Epub 2018 Mar 9 doi: 10.1259/bjr.20170271. PMID: 29376741Free PMC Article
Brown TJ, Brennan MC, Li M, Church EW, Brandmeir NJ, Rakszawski KL, Patel AS, Rizk EB, Suki D, Sawaya R, Glantz M
JAMA Oncol 2016 Nov 1;2(11):1460-1469. doi: 10.1001/jamaoncol.2016.1373. PMID: 27310651Free PMC Article

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