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Glioblastoma multiforme(GBM)

MedGen UID:
301585
Concept ID:
C1621958
Neoplastic Process
Synonym: GBM
SNOMED CT: Glioblastoma multiforme (63634009); Spongioblastoma multiforme (63634009); GLM - Glioblastoma multiforme (63634009); GBM - Glioblastoma multiforme (63634009); Glioblastoma multiforme (393563007)
 
HPO: HP:0012174
OMIM®: 137800

Definition

malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage and necrosis; may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. [from CRISP]

Term Hierarchy

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 NF2 (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 13q12; 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
Turcot syndrome
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).

Recent clinical studies

Etiology

Huang YP, Ma YS, Kuo CL, Liao CL, Chen PY, Peng SF, Hsu FT, Lai KC
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115503. PMID: 34071132Free PMC Article
Mehrnahad M, Rostami S, Kimia F, Kord R, Taheri MS, Rad HS, Haghighatkhah H, Moradi A, Kord A
Neuroradiol J 2020 Oct;33(5):428-436. Epub 2020 Jul 6 doi: 10.1177/1971400920937382. PMID: 32628089Free PMC Article
Alimohammadi E, Bagheri SR, Sadeghsalehi A, Rizevandi P, Rezaie Z, Abdi A
Acta Neurol Belg 2020 Dec;120(6):1341-1350. Epub 2019 Jun 20 doi: 10.1007/s13760-019-01171-x. PMID: 31222512
Sanghani P, Ang BT, King NKK, Ren H
Med Biol Eng Comput 2019 Aug;57(8):1683-1691. Epub 2019 May 18 doi: 10.1007/s11517-019-01986-z. PMID: 31104273
Ai Z, Li L, Fu R, Lu JM, He JD, Li S
Tumour Biol 2017 Apr;39(4):1010428317694574. doi: 10.1177/1010428317694574. PMID: 28381184

Diagnosis

Briones-Claudett KH, Briones-Claudett MH, Villacrés Garcia F, Ortega Almeida C, Escudero-Requena A, Benítez Solís J, Briones Zamora KH, Briones Márquez DC, Grunauer M
Am J Case Rep 2020 Jul 31;21:e922976. doi: 10.12659/AJCR.922976. PMID: 32794473Free PMC Article
Mehrnahad M, Rostami S, Kimia F, Kord R, Taheri MS, Rad HS, Haghighatkhah H, Moradi A, Kord A
Neuroradiol J 2020 Oct;33(5):428-436. Epub 2020 Jul 6 doi: 10.1177/1971400920937382. PMID: 32628089Free PMC Article
Samara A, Berry B, Ghannam M
J Clin Neurosci 2020 Apr;74:234-238. Epub 2020 Jan 21 doi: 10.1016/j.jocn.2020.01.063. PMID: 31973919
Samioti SE, Benos LT, Sarris IE
Comput Methods Programs Biomed 2019 Sep;178:191-199. Epub 2019 Jun 29 doi: 10.1016/j.cmpb.2019.06.031. PMID: 31416549
Ai Z, Li L, Fu R, Lu JM, He JD, Li S
Tumour Biol 2017 Apr;39(4):1010428317694574. doi: 10.1177/1010428317694574. PMID: 28381184

Therapy

Huang YP, Ma YS, Kuo CL, Liao CL, Chen PY, Peng SF, Hsu FT, Lai KC
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115503. PMID: 34071132Free PMC Article
Turek A, Stoklosa K, Borecka A, Paul-Samojedny M, Kaczmarczyk B, Marcinkowski A, Kasperczyk J
Pharm Res 2020 May 7;37(5):90. doi: 10.1007/s11095-020-02810-2. PMID: 32382838Free PMC Article
Litak J, Mazurek M, Grochowski C, Kamieniak P, Roliński J
Int J Mol Sci 2019 Oct 28;20(21) doi: 10.3390/ijms20215347. PMID: 31661771Free 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
Raman F, Scribner E, Saut O, Wenger C, Colin T, Fathallah-Shaykh HM
PLoS One 2016;11(1):e0146617. Epub 2016 Jan 12 doi: 10.1371/journal.pone.0146617. PMID: 26756205Free PMC Article

Prognosis

Litak J, Mazurek M, Grochowski C, Kamieniak P, Roliński J
Int J Mol Sci 2019 Oct 28;20(21) doi: 10.3390/ijms20215347. PMID: 31661771Free PMC Article
Samioti SE, Benos LT, Sarris IE
Comput Methods Programs Biomed 2019 Sep;178:191-199. Epub 2019 Jun 29 doi: 10.1016/j.cmpb.2019.06.031. PMID: 31416549
Bogoch Y, Friedlander-Malik G, Lupu L, Bondar E, Zohar N, Langier S, Ram Z, Nachmany I, Klausner JM, Pencovich N
Tumour Biol 2017 Apr;39(4):1010428317698357. doi: 10.1177/1010428317698357. PMID: 28443460
Ai Z, Li L, Fu R, Lu JM, He JD, Li S
Tumour Biol 2017 Apr;39(4):1010428317694574. doi: 10.1177/1010428317694574. PMID: 28381184
Mu L, Wang T, Chen Y, Tang X, Yuan Y, Zhao Y
Int J Oncol 2016 Oct;49(4):1427-36. Epub 2016 Jul 21 doi: 10.3892/ijo.2016.3626. PMID: 27498706

Clinical prediction guides

Huang YP, Ma YS, Kuo CL, Liao CL, Chen PY, Peng SF, Hsu FT, Lai KC
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115503. PMID: 34071132Free PMC Article
Alimohammadi E, Bagheri SR, Sadeghsalehi A, Rizevandi P, Rezaie Z, Abdi A
Acta Neurol Belg 2020 Dec;120(6):1341-1350. Epub 2019 Jun 20 doi: 10.1007/s13760-019-01171-x. PMID: 31222512
Litak J, Mazurek M, Grochowski C, Kamieniak P, Roliński J
Int J Mol Sci 2019 Oct 28;20(21) doi: 10.3390/ijms20215347. PMID: 31661771Free PMC Article
Ai Z, Li L, Fu R, Lu JM, He JD, Li S
Tumour Biol 2017 Apr;39(4):1010428317694574. doi: 10.1177/1010428317694574. PMID: 28381184
Heiland DH, Haaker G, Delev D, Mercas B, Masalha W, Heynckes S, Gäbelein A, Pfeifer D, Carro MS, Weyerbrock A, Prinz M, Schnell O
Oncotarget 2017 Jun 27;8(26):42214-42225. doi: 10.18632/oncotarget.15031. PMID: 28178682Free PMC Article

Recent systematic reviews

Kyriakou I, Yarandi N, Polycarpou E
Phytomedicine 2021 Jul 15;88:153533. Epub 2021 Mar 5 doi: 10.1016/j.phymed.2021.153533. PMID: 33812759
Espiritu AI, Terencio BB, Jamora RDG
World Neurosurg 2020 Jul;139:90-96. Epub 2020 Apr 13 doi: 10.1016/j.wneu.2020.03.212. PMID: 32298818
Soukhtanloo M, Mohtashami E, Maghrouni A, Mollazadeh H, Mousavi SH, Roshan MK, Tabatabaeizadeh SA, Hosseini A, Vahedi MM, Jalili-Nik M, Afshari AR
Pharmacol Rep 2020 Apr;72(2):285-295. Epub 2020 Mar 9 doi: 10.1007/s43440-020-00081-7. PMID: 32152926
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
Konar SK, Bir SC, Maiti TK, Nanda A
J Neurosurg Pediatr 2017 Feb;19(2):239-248. Epub 2016 Nov 4 doi: 10.3171/2016.8.PEDS1631. PMID: 27813458

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