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Glioma susceptibility 1(GLM1)

MedGen UID:
413414
Concept ID:
C2750850
Finding
Synonyms: Glioblastoma, somatic; GLM1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
 
Genes (locations): ERBB2 (17q12); IDH1 (2q34); TP53 (17p13.1)
OMIM®: 137800

Definition

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 (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. [from GTR]

Additional description

From OMIM
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 (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.  http://www.omim.org/entry/137800

Clinical features

Ependymoma
MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).
Glioblastoma
MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.
Glioblastoma multiforme
MedGen UID:
301585
Concept ID:
C1621958
Neoplastic Process
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.
Ependymoma
MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).
Glioblastoma
MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.
Glioblastoma multiforme
MedGen UID:
301585
Concept ID:
C1621958
Neoplastic Process
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.

Recent clinical studies

Etiology

Wang N, Deng Z, Wang M, Li R, Xu G, Bao G
J Neurol Sci 2017 Apr 15;375:282-288. Epub 2017 Feb 8 doi: 10.1016/j.jns.2017.02.013. PMID: 28320150
Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523
Huang L, Xu W, Yan D, Dai L, Shi X
Tumour Biol 2016 Feb;37(2):2305-11. Epub 2015 Sep 11 doi: 10.1007/s13277-015-3956-3. PMID: 26361958
Huang JY, Yang JF, Qu Q, Qu J, Liu F, Liu FE, Xiong T, Lu SH
Genet Mol Res 2015 Sep 8;14(3):10569-75. doi: 10.4238/2015.September.8.18. PMID: 26400288
Jin Z, Xu H, Zhang X, Zhao G
Tumour Biol 2014 Jan;35(1):357-62. Epub 2013 Aug 6 doi: 10.1007/s13277-013-1050-2. PMID: 23918303

Diagnosis

Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523
Gao X, Tang YJ, Zhang GF, Yu L, Qi ST
Genet Mol Res 2016 May 23;15(2) doi: 10.4238/gmr.15027585. PMID: 27323065
Huang L, Xu W, Yan D, Dai L, Shi X
Tumour Biol 2016 Feb;37(2):2305-11. Epub 2015 Sep 11 doi: 10.1007/s13277-015-3956-3. PMID: 26361958
Zhang S, Ye Z, Song X, Chen G, Huai C, Wang Q, Song J, Lu D, Zhao Y, Chen H
J Neurol Sci 2015 Feb 15;349(1-2):54-9. Epub 2015 Jan 9 doi: 10.1016/j.jns.2014.12.025. PMID: 25638659
Egan KM, Thompson RC, Nabors LB, Olson JJ, Brat DJ, Larocca RV, Brem S, Moots PL, Madden MH, Browning JE, Ann Chen Y
J Neurooncol 2011 Sep;104(2):535-42. Epub 2011 Jan 4 doi: 10.1007/s11060-010-0506-0. PMID: 21203894Free PMC Article

Therapy

Qian T, Zhang B, Qian C, He Y, Li Y
Medicine (Baltimore) 2017 May;96(20):e6832. doi: 10.1097/MD.0000000000006832. PMID: 28514298Free PMC Article
Walsh KM, Codd V, Rice T, Nelson CP, Smirnov IV, McCoy LS, Hansen HM, Elhauge E, Ojha J, Francis SS, Madsen NR, Bracci PM, Pico AR, Molinaro AM, Tihan T, Berger MS, Chang SM, Prados MD, Jenkins RB, Wiemels JL; ENGAGE Consortium Telomere Group., Samani NJ, Wiencke JK, Wrensch MR
Oncotarget 2015 Dec 15;6(40):42468-77. doi: 10.18632/oncotarget.6468. PMID: 26646793Free PMC Article
Wang X, Zhang H, Wang D, Li X
Genet Test Mol Biomarkers 2015 Jan;19(1):59-62. doi: 10.1089/gtmb.2014.0228. PMID: 25514356Free PMC Article
Alexiou GA, Zikou A, Tsiouris S, Goussia A, Kosta P, Papadopoulos A, Voulgaris S, Tsekeris P, Kyritsis AP, Fotopoulos AD, Argyropoulou MI
Magn Reson Imaging 2014 Sep;32(7):854-9. Epub 2014 Apr 24 doi: 10.1016/j.mri.2014.04.013. PMID: 24848292
Li G, Jin TB, Wei XB, He SM, Liang HJ, Yang HX, Cui Y, Chen C, Cai LB, Gao GD
Cancer Epidemiol 2012 Dec;36(6):525-7. Epub 2012 Jul 12 doi: 10.1016/j.canep.2012.06.008. PMID: 22795327

Prognosis

Walsh KM, Codd V, Rice T, Nelson CP, Smirnov IV, McCoy LS, Hansen HM, Elhauge E, Ojha J, Francis SS, Madsen NR, Bracci PM, Pico AR, Molinaro AM, Tihan T, Berger MS, Chang SM, Prados MD, Jenkins RB, Wiemels JL; ENGAGE Consortium Telomere Group., Samani NJ, Wiencke JK, Wrensch MR
Oncotarget 2015 Dec 15;6(40):42468-77. doi: 10.18632/oncotarget.6468. PMID: 26646793Free PMC Article
Han S, Feng S, Yuan G, Dong T, Gao D, Liang G, Wei X
APMIS 2014 Mar;122(3):200-5. Epub 2013 Jun 12 doi: 10.1111/apm.12133. PMID: 23758270
Rice T, Zheng S, Decker PA, Walsh KM, Bracci P, Xiao Y, McCoy LS, Smirnov I, Patoka JS, Hansen HM, Hsuang G, Wiemels JL, Tihan T, Pico AR, Prados MD, Chang SM, Berger MS, Caron A, Fink S, Kollmeyer T, Rynearson A, Voss J, Kosel ML, Fridley BL, Lachance DH, Eckel-Passow JE, Sicotte H, O'Neill BP, Giannini C, Wiencke JK, Jenkins RB, Wrensch MR
Neuro Oncol 2013 May;15(5):535-41. Epub 2013 Jan 29 doi: 10.1093/neuonc/nos324. PMID: 23361564Free PMC Article
Chen DQ, Yao DX, Zhao HY, Yang SJ
Asian Pac J Cancer Prev 2012;13(6):2791-4. PMID: 22938460
Shete S, Lau CC, Houlston RS, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Schildkraut J, Sadetzki S, Johansen C, Bernstein JL, Olson SH, Jenkins RB, Yang P, Vick NA, Wrensch M, Davis FG, McCarthy BJ, Leung EH, Davis C, Cheng R, Hosking FJ, Armstrong GN, Liu Y, Yu RK, Henriksson R; Gliogene Consortium., Melin BS, Bondy ML
Cancer Res 2011 Dec 15;71(24):7568-75. Epub 2011 Oct 28 doi: 10.1158/0008-5472.CAN-11-0013. PMID: 22037877Free PMC Article

Clinical prediction guides

Huang L, Xu W, Yan D, Dai L, Shi X
Tumour Biol 2016 Feb;37(2):2305-11. Epub 2015 Sep 11 doi: 10.1007/s13277-015-3956-3. PMID: 26361958
Zhu W, Yao J, Li Y, Xu B
Tumour Biol 2014 Apr;35(4):3061-6. Epub 2013 Nov 21 doi: 10.1007/s13277-013-1397-4. PMID: 24258108
Kitahara CM, Linet MS, Brenner AV, Wang SS, Melin BS, Wang Z, Inskip PD, Freeman LE, Braganza MZ, Carreón T, Feychting M, Gaziano JM, Peters U, Purdue MP, Ruder AM, Sesso HD, Shu XO, Waters MA, White E, Zheng W, Hoover RN, Fraumeni JF Jr, Chatterjee N, Yeager M, Chanock SJ, Hartge P, Rajaraman P
Cancer Epidemiol Biomarkers Prev 2014 Jan;23(1):47-54. Epub 2013 Nov 12 doi: 10.1158/1055-9965.EPI-13-0913. PMID: 24220915Free PMC Article
Kitahara CM, Wang SS, Melin BS, Wang Z, Braganza M, Inskip PD, Albanes D, Andersson U, Beane Freeman LE, Buring JE, Carreón T, Feychting M, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Hankinson SE, Henriksson R, Hsing AW, Johansen C, Linet MS, McKean-Cowdin R, Michaud DS, Peters U, Purdue MP, Rothman N, Ruder AM, Sesso HD, Severi G, Shu XO, Stevens VL, Visvanathan K, Waters MA, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Hoover R, Fraumeni JF Jr, Chatterjee N, Yeager M, Chanock SJ, Hartge P, Rajaraman P
Int J Epidemiol 2012 Aug;41(4):1075-85. doi: 10.1093/ije/dys114. PMID: 22933650Free PMC Article
Shete S, Lau CC, Houlston RS, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Schildkraut J, Sadetzki S, Johansen C, Bernstein JL, Olson SH, Jenkins RB, Yang P, Vick NA, Wrensch M, Davis FG, McCarthy BJ, Leung EH, Davis C, Cheng R, Hosking FJ, Armstrong GN, Liu Y, Yu RK, Henriksson R; Gliogene Consortium., Melin BS, Bondy ML
Cancer Res 2011 Dec 15;71(24):7568-75. Epub 2011 Oct 28 doi: 10.1158/0008-5472.CAN-11-0013. PMID: 22037877Free PMC Article

Recent systematic reviews

Liu K, Jiang Y
Cell Mol Neurobiol 2017 Mar;37(2):263-274. Epub 2016 Apr 7 doi: 10.1007/s10571-016-0367-y. PMID: 27055523
Kinnersley B, Labussière M, Holroyd A, Di Stefano AL, Broderick P, Vijayakrishnan J, Mokhtari K, Delattre JY, Gousias K, Schramm J, Schoemaker MJ, Fleming SJ, Herms S, Heilmann S, Schreiber S, Wichmann HE, Nöthen MM, Swerdlow A, Lathrop M, Simon M, Bondy M, Sanson M, Houlston RS
Nat Commun 2015 Oct 1;6:8559. doi: 10.1038/ncomms9559. PMID: 26424050Free PMC Article
Zhu W, Yao J, Li Y, Xu B
Tumour Biol 2014 Apr;35(4):3061-6. Epub 2013 Nov 21 doi: 10.1007/s13277-013-1397-4. PMID: 24258108
Zhang B, Wang J, Niu H, Li Y, Yuan F, Tian Y, Zhou F, Hao Z, Zheng Y, Li Q, Wang W
Tumour Biol 2014 Mar;35(3):2081-6. doi: 10.1007/s13277-013-1276-z. PMID: 24122206
Tao Y, Liang G
Tumour Biol 2014 Jan;35(1):369-77. Epub 2013 Aug 21 doi: 10.1007/s13277-013-1052-0. PMID: 23963773

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