MCID: GNG004
MIFTS: 49

Ganglioglioma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Ganglioglioma

MalaCards integrated aliases for Ganglioglioma:

Name: Ganglioglioma 12 76 53 59 55 44 15 73
Childhood Ganglioglioma 12 6 73
Adult Ganglioglioma 12 73
Mixed Cell Tumors Containing Both Neural Ganglionic Cells and Neural Glial Cell Components 53
Cns Ganglioglioma 12

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5078
MeSH 44 D018303
Orphanet 59 ORPHA251949
UMLS via Orphanet 74 C0206716

Summaries for Ganglioglioma

NIH Rare Diseases : 53 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 G-protein signaling Ras family GTPases in kinase cascades (scheme). The drugs Dabrafenib 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 : 76 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 303)
# Related Disease Score Top Affiliating Genes
1 anaplastic ganglioglioma 34.8 GFAP NES
2 desmoplastic infantile ganglioglioma 34.4 GFAP SYP
3 gangliocytoma 33.2 GFAP SYP
4 extraventricular neurocytoma 30.7 GFAP SYP
5 hemimegalencephaly 30.1 GFAP MAP2
6 glioma susceptibility 1 29.9 H3F3A TP53
7 oligodendroglioma 29.8 ENO2 GFAP SYP TP53
8 giant cell glioblastoma 29.7 BRAF GFAP SYP TP53
9 anaplastic ependymoma 29.7 GFAP S100B SYP
10 tuberous sclerosis 29.5 GFAP S100B SYP TSC2
11 rhabdoid meningioma 29.4 BRAF GFAP SMARCB1 SYP
12 pilocytic astrocytoma 29.1 BRAF GFAP S100B SYP TP53
13 neuroblastoma 29.1 ENO2 SYP TP53 TSC2
14 hydrocephalus 29.0 ENO2 GFAP NES SYP TP53
15 dysembryoplastic neuroepithelial tumor 28.7 GFAP MAP2 NES S100B SYP
16 atypical teratoid rhabdoid tumor 28.6 GFAP S100B SMARCB1 SYP TP53
17 ependymoma 28.3 ENO2 GFAP NES S100B SYP
18 gliosarcoma 28.2 ENO2 GFAP NES S100B TP53
19 pleomorphic xanthoastrocytoma 27.9 BRAF CHGA GFAP MAP2 SMARCB1 SYP
20 medulloblastoma 25.9 ENO2 GFAP MAP2 NES S100B SMARCB1
21 desmoplastic infantile astrocytoma/ganglioglioma 12.0
22 nasal ganglioglioma 12.0
23 lung combined type small cell carcinoma 10.9 GFAP SYP
24 nevus of ota 10.8 BRAF TP53
25 pilomyxoid astrocytoma 10.8 GFAP SYP
26 frontal convexity meningioma 10.8 GFAP TP53
27 hyperplastic polyposis syndrome 10.8 BRAF TP53
28 gliofibroma 10.8 GFAP TP53
29 cerebral convexity meningioma 10.8 GFAP TP53
30 protoplasmic astrocytoma 10.8 GFAP TP53
31 spitz nevus 10.8 BRAF TP53
32 lip cancer 10.8 BRAF TP53
33 central nervous system teratoma 10.8 GFAP NES
34 adult hepatocellular carcinoma 10.8 TP53 TSC2
35 obstructive hydrocephalus 10.8 GFAP SYP
36 malignant sertoli cell tumor 10.7 ENO2 SYP
37 mixed glioma 10.7 GFAP TP53
38 central nervous system germ cell tumor 10.7 GFAP NES
39 spinal cancer 10.7 GFAP TP53
40 sinonasal undifferentiated carcinoma 10.7 ENO2 SYP
41 sensory organ benign neoplasm 10.7 ENO2 SYP
42 pancreatic somatostatinoma 10.7 ENO2 SYP
43 cutaneous ganglioneuroma 10.7 ENO2 SYP
44 extrahepatic bile duct adenocarcinoma 10.7 ENO2 SYP
45 mature teratoma 10.7 BRAF TP53
46 orbital cancer 10.7 ENO2 SYP
47 primitive neuroectodermal tumor of the cervix uteri 10.7 ENO2 GFAP
48 middle ear adenoma 10.7 ENO2 SYP
49 ovarian carcinosarcoma 10.7 ENO2 SYP
50 glycogen-rich clear cell breast carcinoma 10.7 SYP TP53

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Ganglioglioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 S100B SMARCB1 SYP TP53 TSC2 BRAF
2 nervous system MP:0003631 9.23 SMARCB1 SYP TP53 TSC2 BRAF ENO2

Drugs & Therapeutics for Ganglioglioma

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3 Protein Kinase Inhibitors Phase 2
4
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
5
Bevacizumab Approved, Investigational Phase 1 216974-75-3
6
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
7
Camptothecin Experimental Phase 1 7689-03-4
8 topoisomerase I inhibitors Phase 1
9 Topoisomerase Inhibitors Phase 1
10 Angiogenesis Inhibitors Phase 1
11 Angiogenesis Modulating Agents Phase 1
12 Antineoplastic Agents, Phytogenic Phase 1
13 Alkylating Agents Phase 1
14 Anesthetics Phase 1
15 Immunosuppressive Agents Phase 1
16 Antirheumatic Agents Phase 1
17 Antineoplastic Agents, Alkylating 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 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
5 A Study of the Treatment of Recurrent Malignant Glioma With rQNestin34.5v.2 Recruiting NCT03152318 Phase 1 rQNestin;Cyclophosphamide
6 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
7 Astrocytoma / Desmoplastic Gamliogliomes (DIA / DIG) - Study of the French Cohort of the Last 20 Years : Clinical, Anatomopathological, Molecular and Radiological Charactersics Recruiting NCT03115164

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:

41
Brain, Temporal Lobe, Spinal Cord, Cerebellum, Pineal, Cortex, Thalamus

Publications for Ganglioglioma

Articles related to Ganglioglioma:

(show top 50) (show all 479)
# Title Authors Year
1
Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion. ( 29687738 )
2018
2
Impact of surgery, adjuvant treatment, and other prognostic factors in the management of anaplastic ganglioglioma. ( 29594461 )
2018
3
Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib. ( 29380516 )
2018
4
Ganglioglioma in children and young adults: single institution experience and review of the literature. ( 29882043 )
2018
5
A case of adult anaplastic cerebellar ganglioglioma. ( 29527389 )
2018
6
Intraventricular Ganglioglioma Presenting with Spontaneous Hemorrhage. ( 29790469 )
2018
7
Unprecedented response to combination BRAF and MEK inhibitors in adult anaplastic ganglioglioma. ( 29335912 )
2018
8
Intractable Yawning as a Predominant Symptom of Temporal Lobe Ganglioglioma: Case Report and Review of Literature. ( 29492135 )
2018
9
Anaplastic ganglioglioma with epithelioid cell components. ( 29869356 )
2018
10
Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord. ( 29675936 )
2018
11
High Resolution MRI of Vestibulocochlear Nerve Involvement by aA Posterior Fossa Ganglioglioma: Case Report and Review of Literature. ( 29858609 )
2018
12
Novel suprasellar location of desmoplastic infantile astrocytoma and ganglioglioma: a single institution's experience. ( 29979130 )
2018
13
Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy. ( 29502353 )
2018
14
Subtotal Resection of an Anaplastic Ganglioglioma in Pregnancy. ( 29862102 )
2018
15
Cerebellopontine angle anaplastic ganglioglioma masquerading as vestibular schwannoma: an unusual entity. ( 29929035 )
2018
16
Desmoplastic non- infantile astrocytoma/Ganglioglioma: rare low-grade tumor with frequent BRAF V600E mutation. ( 29902580 )
2018
17
Anaplastic Ganglioglioma Involving the Entire Length of the Spinal Cord. ( 29502115 )
2018
18
Pigmented Ganglioglioma of the Cerebellum - Case Report and Review. ( 29753075 )
2018
19
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. ( 29434027 )
2018
20
Suprasellar Ganglioglioma: Expanding the Differential Diagnosis. ( 29487755 )
2018
21
The genetic landscape of ganglioglioma. ( 29880043 )
2018
22
Ganglioglioma progression to combined anaplastic ganglioglioma and anaplastic pleomorphic xanthoastrocytoma. Case report and literature review. ( 28939541 )
2017
23
Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma. ( 27718322 )
2017
24
Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation. ( 28144989 )
2017
25
Ex vivo tissue imaging for radiology-pathology correlation: a pilot study with a small bore 7-T MRI in a rare pigmented ganglioglioma exhibiting complex MR signal characteristics associated with melanin and hemosiderin. ( 28924575 )
2017
26
Hemorrhagic ganglioglioma of the third ventricle with atypical pathological findings. ( 28624861 )
2017
27
Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature. ( 27668845 )
2017
28
Malignant transformation and leptomeningeal spread of recurrent ganglioglioma: case report and review of literature. ( 28950177 )
2017
29
Atypical Presentation of a Pediatric Cerebellar Ganglioglioma. ( 28926844 )
2017
30
Discrepancy between radiological and histological findings in ganglioglioma of the optic chasm: Case report. ( 28781923 )
2017
31
Ganglioglioma of brain stem and cervicomedullary junction: A 50years review of literature. ( 28687443 )
2017
32
Cerebellar Ganglioglioma in Childhood: Histopathologic Implications for Management During Long-term Survival: A Case Report. ( 29434497 )
2017
33
Ganglioglioma Arising From Desmoplastic Medulloblastoma: A Case Report and Review of Literature. ( 28232638 )
2017
34
A rare association of ganglioglioma and cavernous malformation: Report of two cases and literature review. ( 28607828 )
2017
35
Intraventricular ganglioglioma with extensive hemorrhage. ( 28406082 )
2017
36
Parkin, PINK1 and DJ1 as possible modulators of mTOR pathway in ganglioglioma. ( 28803490 )
2017
37
miR-217-casein kinase-2 cross talk regulates ERK activation in ganglioglioma. ( 28840260 )
2017
38
Ganglioglioma: Single-institutional experience of 24 cases with review of literature. ( 27695546 )
2016
39
K27M mutation in H3F3A in ganglioglioma grade I with spontaneous malignant transformation extends the histopathological spectrum of the histone H3 oncogenic pathway. ( 27219822 )
2016
40
Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas. ( 27142828 )
2016
41
Journal Club: Pediatric Low-Grade Ganglioglioma: Epidemiology, Treatments, and Outcome Analysis on 348 Children From the Surveillance, Epidemiology, and End Results Database. ( 27428631 )
2016
42
Application of diffusion-weighted imaging and dynamic susceptibility contrast perfusion-weighted imaging for ganglioglioma in adults: Comparison study with oligodendroglioma. ( 27502573 )
2016
43
Ganglioglioma arising from olfactory sheath: A rare site of an uncommon tumor. ( 26874814 )
2016
44
Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. ( 27539475 )
2016
45
Successful Retreatment of a Child with a Refractory Brainstem Ganglioglioma with Vemurafenib. ( 26579623 )
2016
46
Unusual ganglioglioma with extensive calcification and ossification. ( 27510688 )
2016
47
Ganglioglioma of the posterior third ventricle region: An unusual pathology in an uncommon location. ( 26954825 )
2016
48
Serial imaging and management of ganglioglioma with unusual presentation and meningeal spread. ( 27853879 )
2016
49
Newly diagnosed ganglioglioma in an adult patient with multiple sclerosis. ( 27653865 )
2016
50
Progression of Atypical Extraventricular Neurocytoma to Anaplastic Ganglioglioma. ( 27597523 )
2016

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

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 10
2 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 10
3 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 10
4 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 10
5 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 10
6 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 10
7 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 10
8 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
9 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
10 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
11 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
12 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
13 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
14 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 3
15 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3

Expression for Ganglioglioma

Search GEO for disease gene expression data for Ganglioglioma.

Pathways for Ganglioglioma

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 9.02 BRAF GFAP S100B SYP TP53

Sources for Ganglioglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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