MCID: GNG005
MIFTS: 49

Gangliocytoma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Gangliocytoma

Summaries for Gangliocytoma

NIH Rare Diseases : 53 Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor.Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).

MalaCards based summary : Gangliocytoma, also known as ganglioneuroma, is related to ganglioneuroma and ganglioglioma, and has symptoms including seizures An important gene associated with Gangliocytoma is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Neuroscience and Circadian rythm related genes. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, temporal lobe and pituitary, and related phenotypes are ganglioneuroma and headache

Wikipedia : 76 Ganglioglioma is a rare, slow-growing primary central nervous system (CNS) tumor which most frequently... more...

Related Diseases for Gangliocytoma

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 ganglioneuroma 33.4 GFAP SYP
2 ganglioglioma 29.7 GFAP SYP
3 adult medulloblastoma 29.2 GFAP SYP
4 oligodendroglioma 28.6 GFAP PTEN SYP
5 medulloblastoma 28.3 GFAP PTEN SYP
6 cutaneous ganglioneuroma 12.2
7 cowden syndrome 1 11.5
8 cowden disease 11.4
9 multiple endocrine neoplasia, type iib 11.4
10 central hypoventilation syndrome, congenital 11.4
11 hypoganglionosis 10.4 SYP TH
12 adenoma 10.4
13 supratentorial primitive neuroectodermal tumor 10.4 SYP TH
14 perry syndrome 10.4 C9orf72 TH
15 mixed type thymoma 10.3 PTEN SYP
16 pituitary adenoma 10.3
17 peripheral nervous system neoplasm 10.2 SYP TH
18 supranuclear palsy, progressive, 1 10.2 C9orf72 TH
19 acromegaly 10.2
20 autonomic nervous system neoplasm 10.2 SYP TH
21 ectopic cushing syndrome 10.1 CRH SYP
22 cauda equina neoplasm 10.1 RBFOX3 SYP
23 sella turcica neoplasm 10.1 RBFOX3 SYP
24 tuberculum sellae meningioma 10.1 RBFOX3 SYP
25 small cell carcinoma 10.1 PTEN SYP
26 pineal parenchymal tumor of intermediate differentiation 10.0 RBFOX3 SYP
27 cerebritis 10.0
28 gemistocytic astrocytoma 10.0 GFAP PTEN
29 adrenal carcinoma 9.9 CRH SYP
30 desmoplastic infantile ganglioglioma 9.9 GFAP SYP
31 extraventricular neurocytoma 9.9 GFAP SYP
32 lung combined type small cell carcinoma 9.9 GFAP SYP
33 cellular ependymoma 9.9 GFAP SYP
34 rhabdoid meningioma 9.9 GFAP SYP
35 gliomatosis cerebri 9.9 GFAP PTEN
36 pilomyxoid astrocytoma 9.9 GFAP SYP
37 chordoid meningioma 9.9 GFAP SYP
38 central nervous system primitive neuroectodermal neoplasm 9.9 GFAP SYP
39 subependymal glioma 9.9 GFAP SYP
40 chiari malformation 9.9 GFAP SYP
41 dysembryoplastic neuroepithelial tumor 9.9 GFAP SYP
42 cerebral neuroblastoma 9.9 GFAP SYP
43 benign ependymoma 9.9 GFAP SYP
44 multiple system atrophy 1 9.9 GFAP TH
45 astroblastoma 9.9 GFAP SYP
46 pineal gland cancer 9.9 GFAP SYP
47 melanotic neuroectodermal tumor 9.9 GFAP SYP
48 angiocentric glioma 9.9 GFAP SYP
49 obstructive hydrocephalus 9.9 GFAP SYP
50 medulloepithelioma 9.9 GFAP SYP

Graphical network of the top 20 diseases related to Gangliocytoma:



Diseases related to Gangliocytoma

Symptoms & Phenotypes for Gangliocytoma

Human phenotypes related to Gangliocytoma:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003005
2 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
3 spinal cord tumor 59 32 frequent (33%) Frequent (79-30%) HP:0010302
4 amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000141
5 impotence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000802
6 growth hormone excess 59 32 occasional (7.5%) Occasional (29-5%) HP:0000845
7 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
8 abnormality of brainstem morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002363
9 distal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002460
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
12 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
13 focal seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007359
14 adrenocorticotropic hormone excess 59 32 occasional (7.5%) Occasional (29-5%) HP:0011749
15 pituitary null cell adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011761
16 decreased female libido 59 32 occasional (7.5%) Occasional (29-5%) HP:0030018
17 abnormal prolactin level 59 32 occasional (7.5%) Occasional (29-5%) HP:0040086
18 dementia 59 32 very rare (1%) Very rare (<4-1%) HP:0000726
19 excessive daytime somnolence 59 32 very rare (1%) Very rare (<4-1%) HP:0001262
20 abnormality of the cerebellum 59 32 very rare (1%) Very rare (<4-1%) HP:0001317
21 polyphagia 59 32 very rare (1%) Very rare (<4-1%) HP:0002591
22 syringomyelia 59 32 very rare (1%) Very rare (<4-1%) HP:0003396
23 pituitary prolactin cell adenoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006767
24 hemianopsia 59 Frequent (79-30%)
25 neoplasm of the central nervous system 59 Frequent (79-30%)
26 abnormality of the pituitary gland 59 Occasional (29-5%)
27 hemianopia 32 frequent (33%) HP:0012377

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 C9orf72 CRH GFAP PTEN SYP TH
2 nervous system MP:0003631 9.43 C9orf72 CRH GFAP PTEN SYP TH
3 normal MP:0002873 9.02 TH CRH GFAP PTEN SYP

Drugs & Therapeutics for Gangliocytoma

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

(show all 11)
# 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
Bevacizumab Approved, Investigational Phase 1 216974-75-3
5
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
6
Camptothecin Experimental Phase 1 7689-03-4
7 Angiogenesis Inhibitors Phase 1
8 Angiogenesis Modulating Agents Phase 1
9 Antineoplastic Agents, Phytogenic Phase 1
10 topoisomerase I inhibitors Phase 1
11 Topoisomerase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
3 Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI) Unknown status NCT02559804
4 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020

Search NIH Clinical Center for Gangliocytoma

Cochrane evidence based reviews: ganglioneuroma

Genetic Tests for Gangliocytoma

Anatomical Context for Gangliocytoma

MalaCards organs/tissues related to Gangliocytoma:

41
Cerebellum, Temporal Lobe, Pituitary, Spinal Cord, Brain, Medulla Oblongata, Cortex

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 126)
# Title Authors Year
1
A Case of Suspicious Gangliocytoma with Heterogeneously Distributed Lesions in the Thalamus and Basal Ganglia. ( 29725570 )
2018
2
Autonomic seizures and dAcjA vu in a patient with gangliocytoma of the orbitofrontal cortex. ( 29930233 )
2018
3
Transsphenoidal surgery for mixed pituitary gangliocytoma-adenomas. ( 28887280 )
2017
4
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
5
Transdifferentiation of Neuroendocrine Cells: Gangliocytoma Associated With Two Pituitary Adenomas of Different Lineage in MEN1. ( 28079577 )
2017
6
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
7
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
8
Gangliocytoma: outcome of a rare silent pituitary tumour. ( 28232376 )
2017
9
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
10
Endoscopic Endonasal Resection of a Mixed Lesion of Gangliocytoma and Nonfunctioning Pituitary Adenoma. ( 28532920 )
2017
11
A Rare Case of Concomitant Intramedullary Gangliocytoma at the Cervicomedullary Junction in Patient with Neuroendocrine Tumor of Lung. ( 26962423 )
2016
12
Mixed Pituitary Gangliocytoma and Prolactinoma Resistant to the Cabergoline Treatment. ( 27535625 )
2016
13
Gangliocytoma Presenting With Tacrolimus Neurotoxicity in a Renal Transplant Recipient: Case Report. ( 27932167 )
2016
14
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
15
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
16
Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. ( 26210504 )
2015
17
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. ( 26314658 )
2015
18
Pituitary adenoma with gangliocytoma: Report of two cases. ( 25013498 )
2014
19
Infrasellar pituitary gangliocytoma causing Cushing's syndrome. ( 25183169 )
2014
20
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
21
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. ( 24080172 )
2014
22
Endoscopic approach to a collision tumor of growth hormone-secreting adenoma and gangliocytoma in the pituitary gland. ( 25006908 )
2014
23
Acromegaly associated with mixed pituitary adenoma-gangliocytoma and Rathke's cleft cyst. ( 24101276 )
2013
24
Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection. ( 23611590 )
2013
25
Gangliocytoma of the medulla oblongata demonstrating high tracer uptake on positron emission tomography. ( 21732072 )
2012
26
Ossifying pituitary adenoma co-existing with astrocytoma and pituitary adenoma associated with gangliocytoma: two unusual conditions. ( 22274987 )
2012
27
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). ( 23135053 )
2012
28
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. ( 22499315 )
2012
29
Acromegaly associated with gangliocytoma. ( 19789938 )
2012
30
Combined gangliocytoma and non-functioning pituitary adenoma of the pituitary gland. ( 22824692 )
2012
31
Intramedullary gangliocytoma with calcification and multiple intramedullary cysts. ( 22538840 )
2012
32
Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor of the fourth ventricle: a case report. ( 22050334 )
2011
33
Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging. ( 20191074 )
2010
34
Medulloblastoma with extensive nodularity undergoing post-therapeutic maturation to a gangliocytoma: a case report and literature review. ( 21389751 )
2010
35
Cytomorphologic spectrum of mixed pituitary adenoma-gangliocytomas: a report of two cases. ( 21053582 )
2010
36
An intrasellar mixed gangliocytoma-adenoma including ependymal component, and review of the literature. ( 21686419 )
2009
37
Subfrontal gangliocytoma masquerading as olfactory groove meningioma. ( 19234914 )
2009
38
Collision tumor of anaplastic oligodendroglioma and gangliocytoma: a case report. ( 19856221 )
2009
39
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). ( 19332858 )
2009
40
From glioblastoma to gangliocytoma: an unforeseen but welcome shift in biological behavior. ( 19877783 )
2009
41
Combined gangliocytoma and prolactinoma of the pituitary gland. ( 18651251 )
2008
42
An unusual association of a sellar gangliocytoma with a prolactinoma. ( 17440820 )
2008
43
Gangliocytoma associated with focal cortical dysplasia in a young-adult: a case report. ( 18814115 )
2008
44
Cerebellar gangliocytoma presenting with hemifacial spasms: clinical report, literature review and possible mechanisms. ( 18509586 )
2008
45
Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. ( 18095141 )
2007
46
Gangliocytoma of the spinal cord. ( 17460525 )
2007
47
Diffuse cerebral gangliocytoma in an adult with late-onset refractory epilepsy. ( 17990996 )
2007
48
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 16934474 )
2006
49
Pathologic quiz case: an unusual cause of acromegaly. Intrasellar gangliocytoma. ( 15737044 )
2005
50
Acromegaly due to a growth hormone-releasing hormone-secreting intracranial gangliocytoma. ( 15887863 )
2005

Variations for Gangliocytoma

Cosmic variations for Gangliocytoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM28746 IDH1 central nervous system,brain,other,gangliocytoma c.395G>A p.R132H 2:208248388-208248388 6
2 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 5
3 COSM6986287 ZFHX3 central nervous system,brain,other,ganglioglioma c.10376C>T p.P3459L 16:72787900-72787900 4
4 COSM327928 H3F3A central nervous system,spinal cord,other,ganglioglioma c.83A>T p.K28M 1:226064434-226064434 4
5 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 4
6 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 4
7 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 4
8 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 4
9 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 4

Expression for Gangliocytoma

Search GEO for disease gene expression data for Gangliocytoma.

Pathways for Gangliocytoma

Pathways related to Gangliocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 GFAP RBFOX3 SYP TH
3 10.7 GFAP SYP TH

GO Terms for Gangliocytoma

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.43 PTEN SYP TH
2 neuronal cell body GO:0043025 9.33 CRH RBFOX3 TH
3 terminal bouton GO:0043195 9.32 SYP TH
4 cytoplasmic side of plasma membrane GO:0009898 8.96 PTEN TH
5 perikaryon GO:0043204 8.92 C9orf72 CRH RBFOX3 TH

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.63 CRH PTEN TH
2 memory GO:0007613 9.52 PTEN TH
3 negative regulation of protein phosphorylation GO:0001933 9.51 C9orf72 PTEN
4 learning or memory GO:0007611 9.49 CRH PTEN
5 social behavior GO:0035176 9.48 PTEN TH
6 response to activity GO:0014823 9.43 PTEN TH
7 response to zinc ion GO:0010043 9.4 PTEN TH
8 response to immobilization stress GO:0035902 9.37 CRH TH
9 response to ethanol GO:0045471 9.33 CRH PTEN TH
10 synaptic transmission, dopaminergic GO:0001963 9.32 CRH TH
11 response to corticosterone GO:0051412 9.26 CRH TH
12 response to ether GO:0045472 8.96 CRH TH
13 long-term synaptic potentiation GO:0060291 8.8 CRH GFAP PTEN

Sources for Gangliocytoma

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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