MCID: GNG004
MIFTS: 50

Ganglioglioma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ganglioglioma

MalaCards integrated aliases for Ganglioglioma:

Name: Ganglioglioma 12 77 54 60 56 6 45 15 41 17 74
Childhood Ganglioglioma 12 6 74
Adult Ganglioglioma 12 74
Mixed Cell Tumors Containing Both Neural Ganglionic Cells and Neural Glial Cell Components 54
Cns Ganglioglioma 12

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5078
MeSH 45 D018303
SNOMED-CT 69 89880005
UMLS via Orphanet 75 C0206716
Orphanet 60 ORPHA251949

Summaries for Ganglioglioma

NIH Rare Diseases : 54 A ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors.  Gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor.  This can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides.  Most gangliogliomas grow slowly and are considered benign.  However, up to 10% of gangliogliomas may grow more rapidly and become malignant, meaning the tumor affects the surrounding brain tissue.    The main treatment for ganglioglioma is removal of the entire tumor during surgery.  If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition.

MalaCards based summary : Ganglioglioma, also known as childhood ganglioglioma, is related to anaplastic ganglioglioma and desmoplastic infantile ganglioglioma, and has symptoms including seizures An important gene associated with Ganglioglioma is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Neuroscience and Integrated Breast Cancer Pathway. The drugs Carboplatin and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are Increased proliferation and behavior/neurological

Disease Ontology : 12 A cell type benign neoplasm that has material basis in glial-type cells.

Wikipedia : 77 Ganglioglioma is a rare, slow-growing primary central nervous system (CNS) tumor which most frequently... more...

Related Diseases for Ganglioglioma

Diseases related to Ganglioglioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 anaplastic ganglioglioma 34.3 GFAP NES
2 desmoplastic infantile ganglioglioma 33.9 GFAP SYP
3 pilocytic astrocytoma 30.7 BRAF GFAP
4 hemimegalencephaly 30.2 GFAP MAP2
5 extraventricular neurocytoma 30.2 GFAP SYP
6 hemangioma 30.1 CHGA ENO2 SYP
7 atypical teratoid rhabdoid tumor 30.0 GFAP SMARCB1 SYP TP53
8 rhabdoid cancer 30.0 ENO2 SMARCB1 SYP TP53
9 benign ependymoma 30.0 ENO2 GFAP SYP TSC2
10 glioma susceptibility 1 29.9 GFAP H3F3A TP53
11 rhabdoid meningioma 29.9 BRAF GFAP SMARCB1
12 tuberous sclerosis 29.9 GFAP S100B SYP TSC2
13 pleomorphic xanthoastrocytoma 29.8 BRAF CHGA GFAP SMARCB1 SYP TP53
14 giant cell glioblastoma 29.8 BRAF GFAP SYP TP53
15 anaplastic ependymoma 29.8 GFAP S100B SYP
16 hydrocephalus 29.6 ENO2 GFAP NES SYP TP53
17 dysembryoplastic neuroepithelial tumor 29.6 GFAP MAP2 NES S100B SYP
18 oligodendroglioma 29.4 ENO2 GFAP S100B SYP TP53
19 ependymoma 29.4 ENO2 GFAP NES S100B SYP
20 tanycytic ependymoma 29.2 CHGA GFAP NES SMARCB1 SYP
21 gliosarcoma 29.1 ENO2 GFAP NES S100B TP53
22 central neurocytoma 29.1 CHGA ENO2 GFAP MAP2 NES SYP
23 neurilemmoma 28.9 ENO2 GFAP NES S100B SMARCB1
24 medulloblastoma 27.9 ENO2 GFAP MAP2 NES S100B SMARCB1
25 desmoplastic infantile astrocytoma/ganglioglioma 12.2
26 nasal ganglioglioma 12.2
27 gangliocytoma 11.5
28 epilepsy 10.5
29 obstructive hydrocephalus 10.5 GFAP SYP
30 pineoblastoma 10.5 GFAP SYP
31 childhood oligodendroglioma 10.5 GFAP SYP
32 perivascular epithelioid cell tumor 10.4 SYP TSC2
33 bladder squamous cell carcinoma 10.4 BRAF TP53
34 mature teratoma 10.4 BRAF TP53
35 myxosarcoma 10.4 SYP TP53
36 spitz nevus 10.4 BRAF TP53
37 hyperplastic polyposis syndrome 10.4 BRAF TP53
38 glycogen-rich clear cell breast carcinoma 10.4 SYP TP53
39 necrotizing sialometaplasia 10.4 GFAP TP53
40 malignant ependymoma 10.4 GFAP TP53
41 mixed glioma 10.4 GFAP TP53
42 spinal cancer 10.4 GFAP TP53
43 cerebral convexity meningioma 10.4 GFAP TP53
44 protoplasmic astrocytoma 10.4 GFAP TP53
45 meninges sarcoma 10.4 GFAP TP53
46 central nervous system germ cell tumor 10.4 GFAP NES
47 pancreatic somatostatinoma 10.4 ENO2 SYP
48 bone benign neoplasm 10.4 ENO2 SYP
49 sensory organ benign neoplasm 10.4 ENO2 SYP
50 connective tissue benign neoplasm 10.4 ENO2 SYP

Graphical network of the top 20 diseases related to Ganglioglioma:



Diseases related to Ganglioglioma

Symptoms & Phenotypes for Ganglioglioma

UMLS symptoms related to Ganglioglioma:


seizures

GenomeRNAi Phenotypes related to Ganglioglioma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Ganglioglioma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 BRAF ENO2 GFAP MAP2 S100B SMARCB1
2 nervous system MP:0003631 9.28 BRAF CHGA ENO2 GFAP MAP2 SMARCB1

Drugs & Therapeutics for Ganglioglioma

Drugs for Ganglioglioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
2
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
3
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
4
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
5
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
6 Protein Kinase Inhibitors Phase 2,Phase 1
7 Antineoplastic Agents, Phytogenic Phase 2
8 Antimitotic Agents Phase 2
9 Antioxidants Phase 2
10 Free Radical Scavengers Phase 2
11 Protective Agents Phase 2
12
Bevacizumab Approved, Investigational Phase 1 216974-75-3
13
Irinotecan Approved, Investigational Phase 1 100286-90-6, 97682-44-5 60838
14
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
15
Lenograstim Approved, Investigational Phase 1 135968-09-1
16
Gemcitabine Approved Phase 1 95058-81-4 60750
17 Topoisomerase Inhibitors Phase 1
18 Angiogenesis Inhibitors Phase 1
19 topoisomerase I inhibitors Phase 1
20 Angiogenesis Modulating Agents Phase 1
21 Antineoplastic Agents, Immunological Phase 1
22 Anesthetics Phase 1
23 Antineoplastic Agents, Alkylating Phase 1
24 Immunologic Factors Phase 1
25 Antirheumatic Agents Phase 1
26 Alkylating Agents Phase 1
27 Immunosuppressive Agents Phase 1
28 Antimetabolites, Antineoplastic Phase 1
29 Anti-Infective Agents Phase 1
30 Antimetabolites Phase 1
31 Adjuvants, Immunologic Phase 1
32 Antiviral Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antineoplaston Therapy in Treating Children With Brain Tumors Completed NCT00003458 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
2 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
3 Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation Active, not recruiting NCT01288235 Phase 2
4 Dabrafenib With Trametinib After Radiation Therapy in Treating Patients With Newly-Diagnosed BRAF V600-Mutant High-Grade Glioma Not yet recruiting NCT03919071 Phase 2 Dabrafenib;Dabrafenib Mesylate;Trametinib;Trametinib Dimethyl Sulfoxide
5 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
6 A Study of the Treatment of Recurrent Malignant Glioma With rQNestin34.5v.2 Recruiting NCT03152318 Phase 1 rQNestin;Cyclophosphamide
7 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
8 Astrocytoma / Desmoplastic Gamliogliomes (DIA / DIG) - Study of the French Cohort of the Last 20 Years : Clinical, Anatomopathological, Molecular and Radiological Charactersics Unknown status NCT03115164
9 Social Determinants of Health in Glioblastoma Population Not yet recruiting NCT03900689

Search NIH Clinical Center for Ganglioglioma

Cochrane evidence based reviews: ganglioglioma

Genetic Tests for Ganglioglioma

Anatomical Context for Ganglioglioma

MalaCards organs/tissues related to Ganglioglioma:

42
Brain, Temporal Lobe, Spinal Cord, Pituitary, Cerebellum, Lung, Pineal

Publications for Ganglioglioma

Articles related to Ganglioglioma:

(show top 50) (show all 479)
# Title Authors Year
1
Comparison of conventional, diffusion, and perfusion MRI between infratentorial ganglioglioma and pilocytic astrocytoma. ( 31032625 )
2019
2
High Resolution MRI of Vestibulocochlear Nerve Involvement by a Posterior Fossa Ganglioglioma: Case Report and Review of Literature. ( 29858609 )
2019
3
Review: Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype-phenotype analysis. ( 30326153 )
2019
4
Ganglioglioma Arising from the Septum Pellucidum: Case Report and Review of the Literature. ( 30620941 )
2019
5
Ganglioglioma in a Survivor of Infantile Glioblastoma. ( 30676438 )
2019
6
Hyperadrenocorticism Caused by a Pituitary Ganglioglioma in a Dog. ( 30774022 )
2019
7
Intramedullary Spinal Cord Ganglioglioma Presenting as Hyperhidrosis: A Rare Case Report and literature Review. ( 30904797 )
2019
8
Ganglioglioma presenting with CSF rhinorrhoea : A rare presentation. ( 30922908 )
2019
9
Composite pleomorphic xanthoastrocytoma-ganglioglioma; assessing and addressing the dilemma of differential expression of neuronal markers: Case report with diagnostic perspective. ( 30971560 )
2019
10
Prolonged Response Induced by Single Agent Vemurafenib in a BRAF V600E Spinal Ganglioglioma: A Case Report and Review of the Literature. ( 30984614 )
2019
11
Ganglioglioma of the adenohypophysis mimicking pituitary adenoma: A case report and review of the literature. ( 30045287 )
2018
12
Unprecedented response to combination BRAF and MEK inhibitors in adult anaplastic ganglioglioma. ( 29335912 )
2018
13
Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib. ( 29380516 )
2018
14
Anaplastic Ganglioglioma Involving the Entire Length of the Spinal Cord. ( 29502115 )
2018
15
Impact of surgery, adjuvant treatment, and other prognostic factors in the management of anaplastic ganglioglioma. ( 29594461 )
2018
16
Subtotal Resection of an Anaplastic Ganglioglioma in Pregnancy. ( 29862102 )
2018
17
Anaplastic ganglioglioma with epithelioid cell components. ( 29869356 )
2018
18
Cerebellopontine Angle Anaplastic Ganglioglioma Masquerading as Vestibular Schwannoma: Unusual Entity. ( 29929035 )
2018
19
Pediatric primary anaplastic ganglioglioma with malignant neuronal component. ( 30102489 )
2018
20
Desmoplastic non-infantile astrocytoma/ganglioglioma: rare low-grade tumor with frequent BRAF V600E mutation. ( 29902580 )
2018
21
Novel suprasellar location of desmoplastic infantile astrocytoma and ganglioglioma: a single institution's experience. ( 29979130 )
2018
22
Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations. ( 30006355 )
2018
23
Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy. ( 30396366 )
2018
24
Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion. ( 29687738 )
2018
25
Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. ( 27984673 )
2018
26
Parkin, PINK1 and DJ1 as possible modulators of mTOR pathway in ganglioglioma. ( 28803490 )
2018
27
Atypical Presentation of a Pediatric Cerebellar Ganglioglioma. ( 28926844 )
2018
28
Malignant transformation and leptomeningeal spread of recurrent ganglioglioma: case report and review of literature. ( 28950177 )
2018
29
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. ( 29434027 )
2018
30
Suprasellar Ganglioglioma: Expanding the Differential Diagnosis. ( 29487755 )
2018
31
Intractable Yawning as a Predominant Symptom of Temporal Lobe Ganglioglioma: Case Report and Review of Literature. ( 29492135 )
2018
32
Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy. ( 29502353 )
2018
33
A case of adult anaplastic cerebellar ganglioglioma. ( 29527389 )
2018
34
Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord. ( 29675936 )
2018
35
Pigmented Ganglioglioma of the Cerebellum: Case Report and Review. ( 29753075 )
2018
36
Intraventricular Ganglioglioma Presenting with Spontaneous Hemorrhage. ( 29790469 )
2018
37
The genetic landscape of ganglioglioma. ( 29880043 )
2018
38
Ganglioglioma in children and young adults: single institution experience and review of the literature. ( 29882043 )
2018
39
Vemurafenib and cobimetinib overcome resistance to vemurafenib in BRAF-mutant ganglioglioma. ( 30120137 )
2018
40
Intraventricular ganglioglioma with dissemination of cerebrospinal fluid. ( 30202135 )
2018
41
Inflammatory myofibroblastic lung tumor transforming into intracranial desmoplastic noninfantile ganglioglioma: A case report and literature review. ( 30290651 )
2018
42
Cervicomedullary Ganglioglioma in a Child - A Case Report. ( 30414363 )
2018
43
Progression of atypical extraventricular neurocytoma to anaplastic ganglioglioma. ( 27597523 )
2017
44
Pediatric intracranial primary anaplastic ganglioglioma. ( 27921213 )
2017
45
Ganglioglioma Progression to Combined Anaplastic Ganglioglioma and Anaplastic Pleomorphic Xanthoastrocytoma. Case Report and Literature Review. ( 28939541 )
2017
46
Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation. ( 27860162 )
2017
47
Infratentorial ganglioglioma mimicking pilocytic astrocytoma. ( 27936528 )
2017
48
Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature. ( 27668845 )
2017
49
Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma. ( 27718322 )
2017
50
A rare association of ganglioglioma and cavernous malformation: Report of two cases and literature review. ( 28607828 )
2017

Variations for Ganglioglioma

ClinVar genetic disease variations for Ganglioglioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.5(BRAF): c.1794_1796dup (p.Thr599_Val600insThr) duplication Pathogenic rs727502902 GRCh37 Chromosome 7, 140453139: 140453141
2 BRAF NM_004333.5(BRAF): c.1794_1796dup (p.Thr599_Val600insThr) duplication Pathogenic rs727502902 GRCh38 Chromosome 7, 140753339: 140753341
3 BAP1 NM_004656.4(BAP1): c.1833G> C (p.Glu611Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 52403195: 52403195
4 BAP1 NM_004656.4(BAP1): c.1833G> C (p.Glu611Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 52437211: 52437211

Cosmic variations for Ganglioglioma:

9 (show all 15)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6986287 ZFHX3 central nervous system,brain,other,ganglioglioma c.10376C>T p.P3459L 16:72787900-72787900 0
2 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
3 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 0
4 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 0
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 0
6 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 0
7 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 0
8 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 0
9 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 0
10 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 0
11 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 0
12 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 0
13 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 0
14 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
15 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 0

Expression for Ganglioglioma

Search GEO for disease gene expression data for Ganglioglioma.

Pathways for Ganglioglioma

Pathways related to Ganglioglioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.89 ENO2 GFAP MAP2 S100B SYP
2 11.69 BRAF TP53 TSC2
3 11.48 BRAF TP53 TSC2
4 10.96 MAP2 TP53 TSC2
5 10.92 GFAP MAP2 NES S100B SYP

GO Terms for Ganglioglioma

Cellular components related to Ganglioglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.8 BRAF GFAP MAP2

Biological processes related to Ganglioglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuronal synaptic plasticity GO:0048168 8.96 S100B SYP
2 long-term synaptic potentiation GO:0060291 8.8 BRAF GFAP S100B

Molecular functions related to Ganglioglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 BRAF GFAP S100B SYP TP53
2 small GTPase binding GO:0031267 8.96 BRAF TSC2
3 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.8 H3F3A SMARCB1 TP53

Sources for Ganglioglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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