Compendium of Cancer Genome Aberrations

CNS5:Ganglioglioma: Difference between revisions

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{{DISPLAYTITLE:Ganglioglioma}}
{{DISPLAYTITLE:Ganglioglioma}}


[[CNS5:Table_of_Contents|Central Nervous System Tumours(WHO Classification, 5th ed.)]]
[[CNS5:Table_of_Contents|Central Nervous System Tumours (WHO Classification, 5th ed.)]]


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{{Under Construction}}
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==Primary Author(s)*==
==Primary Author(s)*==
Dr Leila Moayed Alaei, Royal Prince Alfred Hospital  
Dr Leila Moayed Alaei, Royal Prince Alfred Hospital  
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
This is a distinct entity in the World Health Organization (WHO) classification system within the section of Gliomas, Glioneuronal and neuronal tumours. This is a well-differentiated glioneuronal tumour with low proliferative activity, comprised of mixed neoplastic neuronal and glial cell components. It is molecularly characterized by genomic aberrations causing MAPK pathway activation (CNS WHO grade 1)<ref name=":0">Solomon D.A. et al. (2021). Ganglioglioma, in "World Health Organization Classification of Central Nervous System Tumours" (5th edition). pp.111-115. </ref>.


==Synonyms / Terminology==
None
==Epidemiology / Prevalence==
Gangliogliomas are generally tumours of adolescent/young adults with a median age of 12 years at the time of diagnosis. However, the tumour has been reported in wider range of age from 0 to 70 years of age<ref>{{Cite journal|last=Lang|first=Shih-Shan|last2=Beslow|first2=Lauren A.|last3=Gabel|first3=Brandon|last4=Judkins|first4=Alex R.|last5=Fisher|first5=Michael J.|last6=Sutton|first6=Leslie N.|last7=Storm|first7=Phillip B.|last8=Heuer|first8=Gregory G.|date=2012-07|title=Surgical treatment of brain tumors in infants younger than six months of age and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/22120270|journal=World Neurosurgery|volume=78|issue=1-2|pages=137–144|doi=10.1016/j.wneu.2011.09.012|issn=1878-8769|pmc=3292637|pmid=22120270}}</ref><ref name=":3">{{Cite journal|last=Blumcke|first=Ingmar|last2=Spreafico|first2=Roberto|last3=Haaker|first3=Gerrit|last4=Coras|first4=Roland|last5=Kobow|first5=Katja|last6=Bien|first6=Christian G.|last7=Pfäfflin|first7=Margarete|last8=Elger|first8=Christian|last9=Widman|first9=Guido|date=2017-10-26|title=Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery|url=https://pubmed.ncbi.nlm.nih.gov/29069555|journal=The New England Journal of Medicine|volume=377|issue=17|pages=1648–1656|doi=10.1056/NEJMoa1703784|issn=1533-4406|pmid=29069555}}</ref>. The tumour is more prevalent in male patients (59.8%) than in female patients (40.2%)<ref>{{Cite journal|last=Dudley|first=Roy W. R.|last2=Torok|first2=Michelle R.|last3=Gallegos|first3=Danielle R.|last4=Mulcahy-Levy|first4=Jean M.|last5=Hoffman|first5=Lindsey M.|last6=Liu|first6=Arthur K.|last7=Handler|first7=Michael H.|last8=Hankinson|first8=Todd C.|date=2015-03|title=Pediatric low-grade ganglioglioma: epidemiology, treatments, and outcome analysis on 348 children from the surveillance, epidemiology, and end results database|url=https://pubmed.ncbi.nlm.nih.gov/25603107|journal=Neurosurgery|volume=76|issue=3|pages=313–319; discussion 319; quiz 319–320|doi=10.1227/NEU.0000000000000619|issn=1524-4040|pmc=4333003|pmid=25603107}}</ref>.
==Clinical Features==
The clinical features are dependent on the tumour location and size. If located in the cerebrum, the most common presentation is with focal seizures<ref name=":0" /><ref name=":1">{{Cite journal|last=Prayson|first=R. A.|last2=Khajavi|first2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors|url=https://pubmed.ncbi.nlm.nih.gov/7541447|journal=Journal of Neuropathology and Experimental Neurology|volume=54|issue=4|pages=513–520|doi=10.1097/00005072-199507000-00005|issn=0022-3069|pmid=7541447}}</ref>, with up to 23.6% of surgical epilepsy specimens harbouring gangliogliomas<ref>{{Cite journal|last=Blumcke|first=Ingmar|last2=Spreafico|first2=Roberto|last3=Haaker|first3=Gerrit|last4=Coras|first4=Roland|last5=Kobow|first5=Katja|last6=Bien|first6=Christian G.|last7=Pfäfflin|first7=Margarete|last8=Elger|first8=Christian|last9=Widman|first9=Guido|date=2017-10-26|title=Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery|url=https://pubmed.ncbi.nlm.nih.gov/29069555|journal=The New England Journal of Medicine|volume=377|issue=17|pages=1648–1656|doi=10.1056/NEJMoa1703784|issn=1533-4406|pmid=29069555}}</ref>. The mean duration of symptoms prior to diagnosis is also dependent on location. For tumours located in the cerebrum, the duration of symptoms prior to diagnosis ranges between 5 and 10 years, whereas in the brainstem and spinal cord, the mean duration of symptoms pre-diagnosis ranges between 1.25 years and 1.4 years, respectively<ref name=":1" /><ref name=":4">{{Cite journal|last=Lang|first=F. F.|last2=Epstein|first2=F. J.|last3=Ransohoff|first3=J.|last4=Allen|first4=J. C.|last5=Wisoff|first5=J.|last6=Abbott|first6=I. R.|last7=Miller|first7=D. C.|date=1993-12|title=Central nervous system gangliogliomas. Part 2: Clinical outcome|url=https://pubmed.ncbi.nlm.nih.gov/8246055|journal=Journal of Neurosurgery|volume=79|issue=6|pages=867–873|doi=10.3171/jns.1993.79.6.0867|issn=0022-3085|pmid=8246055}}</ref>.
The archetypal radiological features are of a circumscribed, solid/cystic mass, although varied appearances are the norm, ranging from presentation as a small cyst to a solid mass<ref name=":2">{{Cite journal|last=Zhang|first=D.|last2=Henning|first2=T. D.|last3=Zou|first3=L.-G.|last4=Hu|first4=L.-B.|last5=Wen|first5=L.|last6=Feng|first6=X.-Y.|last7=Dai|first7=S.-H.|last8=Wang|first8=W.-X.|last9=Sun|first9=Q.-R.|date=2008-01|title=Intracranial ganglioglioma: clinicopathological and MRI findings in 16 patients|url=https://pubmed.ncbi.nlm.nih.gov/18068794|journal=Clinical Radiology|volume=63|issue=1|pages=80–91|doi=10.1016/j.crad.2007.06.010|issn=0009-9260|pmid=18068794}}</ref>.  Patterns of contrast enhancement can also vary, including enhancement of the cystic wall to a markedly enhanced nodule<ref name=":2" />.
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|Intracerebral ganglioglioma: Seizure; chronic temporal lobe epilepsy<ref name=":1" />
|Acceptable
 
|N/A
Brain stem ganglioglioma: blurry vision, loss of memory, syncope spells, cranial nerve deficits, headache, and gait instability<ref>{{Cite journal|last=Mpairamidis|first=Evriviadis|last2=Alexiou|first2=George A.|last3=Stefanaki|first3=Kalliopi|last4=Sfakianos|first4=George|last5=Prodromou|first5=Neofytos|date=2008-12|title=Brainstem ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/19073857|journal=Journal of Child Neurology|volume=23|issue=12|pages=1481–1483|doi=10.1177/0883073808319316|issn=1708-8283|pmid=19073857}}</ref>
 
Spinal cord ganglioglioma:  acute onset paraparesis<ref>{{Cite journal|last=Cruz|first=Thainá Zanon|last2=Ferreira-Pinto|first2=Pedro Henrique Costa|last3=Brito|first3=Ana Carolina Gonçalves|last4=Ururahy|first4=Leandro|last5=Sanchez|first5=Jefferson Trivino|last6=Nigri|first6=Flavio|date=2021|title=Ganglioglioma of the cervicothoracic spinal cord in a patient with neurofibromatosis type 1: A case report|url=https://pubmed.ncbi.nlm.nih.gov/34345454|journal=Surgical Neurology International|volume=12|pages=313|doi=10.25259/SNI_192_2021|issn=2229-5097|pmc=8326088|pmid=34345454}}</ref>
|-
|-
|'''Imaging Findings'''
|Not Recommended
|Classic imaging features: T1 iso- to hypointense solid component,  T2-hyperintense solid component with varied signal within the cystic component; nodule and cyst wall show variable contrast enhancement<ref name=":2" />
|N/A
|}
 
==Sites of Involvement==
 
Most common location: temporal lobes (>70%)<ref name=":1" /><ref name=":4" /><ref name=":5">{{Cite journal|last=Wolf|first=H. K.|last2=Müller|first2=M. B.|last3=Spänle|first3=M.|last4=Zentner|first4=J.|last5=Schramm|first5=J.|last6=Wiestler|first6=O. D.|date=1994|title=Ganglioglioma: a detailed histopathological and immunohistochemical analysis of 61 cases|url=https://pubmed.ncbi.nlm.nih.gov/7985497|journal=Acta Neuropathologica|volume=88|issue=2|pages=166–173|doi=10.1007/BF00294510|issn=0001-6322|pmid=7985497}}</ref>
 
Other locations: cerebrum, brainstem, cerebellum, spinal cord, and optic nerves, lateral ventricle<ref name=":3" /><ref name=":1" /><ref name=":4" /><ref name=":5" />[3,5,6,18]
 
==Morphologic Features==
 
Ganglioglioma is a biphasic tumour composed of a neoplastic neuronal and a neoplastic glial component<ref name=":3" /><ref name=":5" />. The neoplastic neuronal component is comprised of dysmorphic ganglion cells showing cytomegaly, binucleation and perimembranous aggregation of Nissl substance. Disorganised cytoarchitecture is also observed, with clustering of neurons. The neoplastic glial component can resemble a diffuse glioma or pilocytic astrocytoma; the glial component harbours the proliferative component of the tumour, which can show infiltration on microscopy. Proliferative activity is usually low to absent. The two components can be intermingled or geographically distinct. Other pertinent histological features include Rosenthal fibres, eosinophilic granular bodies and perivascular lymphoid infiltration<ref name=":3" /><ref name=":5" />[3,18]. An association with focal cortical dysplasia is a commonly reported finding<ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Thom|first2=Maria|last3=Aronica|first3=Eleonora|last4=Armstrong|first4=Dawna D.|last5=Vinters|first5=Harry V.|last6=Palmini|first6=Andre|last7=Jacques|first7=Thomas S.|last8=Avanzini|first8=Giuliano|last9=Barkovich|first9=A. James|date=2011-01|title=The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission|url=https://pubmed.ncbi.nlm.nih.gov/21219302|journal=Epilepsia|volume=52|issue=1|pages=158–174|doi=10.1111/j.1528-1167.2010.02777.x|issn=1528-1167|pmc=3058866|pmid=21219302}}</ref>.
 
==Immunophenotype==
 
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)
|CD34 expressed in expressed in ramified tumor cells<ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Wiestler|first2=Otmar D.|date=2002-07|title=Gangliogliomas: an intriguing tumor entity associated with focal epilepsies|url=https://pubmed.ncbi.nlm.nih.gov/12125736|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=7|pages=575–584|doi=10.1093/jnen/61.7.575|issn=0022-3069|pmid=12125736}}</ref>
 
Neoplastic neuronal component – MAP2, neurofilament, synaptophysin, chromogranin A
 
*No definitive markers for neoplastic neuronal component
*Typical profile: chromogranin A+, NeuN-, synaptophysin+, neurofilament+, MAP2+ (but MAP2 - in glial component)<ref name=":0" /><ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Wiestler|first2=Otmar D.|date=2002-07|title=Gangliogliomas: an intriguing tumor entity associated with focal epilepsies|url=https://pubmed.ncbi.nlm.nih.gov/12125736|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=7|pages=575–584|doi=10.1093/jnen/61.7.575|issn=0022-3069|pmid=12125736}}</ref>
 
Neoplastic glial component – GFAP, OLIG2 (MAP2 -)
 
*Ki-67 <5%<ref>{{Cite journal|last=Prayson|first=R. A.|last2=Khajavi|first2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors|url=https://pubmed.ncbi.nlm.nih.gov/7541447|journal=Journal of Neuropathology and Experimental Neurology|volume=54|issue=4|pages=513–520|doi=10.1097/00005072-199507000-00005|issn=0022-3069|pmid=7541447}}</ref>
|-
|Positive (subset)
|BRAF VE1 (+ in BRAF-mutant gangliogliomas)<ref name=":0" />
|-
|Negative (universal)
| IDH1 R132H, ATRX (normal retained pattern of staining)<ref name=":0" />
|-
|Negative (subset)
|BRAF VE1 (- in BRAF-wildtype gangliogliomas)<ref name=":0" />
|}
|}


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'''Add content below into table above''' -  
{| class="wikitable"
{| class="wikitable"
|'''Chromosomal Rearrangement'''
|'''Chromosomal Rearrangement'''
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|duplication  
|duplication  
|16.7%<ref name=":8" />
|16.7%<ref name=":8" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0">Solomon D.A. et al. (2021). Ganglioglioma, in "World Health Organization Classification of Central Nervous System Tumours" (5th edition). pp.111-115. </ref><ref name=":6" />
|No
|No
|Yes<ref name=":9">{{Cite journal|last=Schreck|first=Karisa C.|last2=Grossman|first2=Stuart A.|last3=Pratilas|first3=Christine A.|date=2019-08-28|title=BRAF Mutations and the Utility of RAF and MEK Inhibitors in Primary Brain Tumors|url=https://pubmed.ncbi.nlm.nih.gov/31466300|journal=Cancers|volume=11|issue=9|pages=E1262|doi=10.3390/cancers11091262|issn=2072-6694|pmc=6769482|pmid=31466300}}</ref>
|Yes<ref name=":9">{{Cite journal|last=Schreck|first=Karisa C.|last2=Grossman|first2=Stuart A.|last3=Pratilas|first3=Christine A.|date=2019-08-28|title=BRAF Mutations and the Utility of RAF and MEK Inhibitors in Primary Brain Tumors|url=https://pubmed.ncbi.nlm.nih.gov/31466300|journal=Cancers|volume=11|issue=9|pages=E1262|doi=10.3390/cancers11091262|issn=2072-6694|pmc=6769482|pmid=31466300}}</ref>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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|
|
|}
|}
 
'''Add content below into table above''' -  
{| class="wikitable"
{| class="wikitable"
|'''Chr #  '''
|'''Chr #  '''
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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'''Add content below into table above''' -  
{| class="wikitable"
{| class="wikitable"
|'''Gene; Genetic Alteration'''
|'''Gene; Genetic Alteration'''
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<br />
<br />
|}
|}


==Epigenomic Alterations==
==Epigenomic Alterations==
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Inactivating germline mutations or deletions of ''NF1'', as occurs in neurofibromatosis type 1, can be associated with a minor proportion of gangliogliomas<ref name=":6" /><ref>{{Cite journal|last=Rodriguez|first=Fausto J.|last2=Perry|first2=Arie|last3=Gutmann|first3=David H.|last4=O'Neill|first4=Brian Patrick|last5=Leonard|first5=Jeffrey|last6=Bryant|first6=Sandra|last7=Giannini|first7=Caterina|date=2008-03|title=Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients|url=https://pubmed.ncbi.nlm.nih.gov/18344915|journal=Journal of Neuropathology and Experimental Neurology|volume=67|issue=3|pages=240–249|doi=10.1097/NEN.0b013e318165eb75|issn=0022-3069|pmc=3417064|pmid=18344915}}</ref>
Inactivating germline mutations or deletions of ''NF1'', as occurs in neurofibromatosis type 1, can be associated with a minor proportion of gangliogliomas<ref name=":6" /><ref>{{Cite journal|last=Rodriguez|first=Fausto J.|last2=Perry|first2=Arie|last3=Gutmann|first3=David H.|last4=O'Neill|first4=Brian Patrick|last5=Leonard|first5=Jeffrey|last6=Bryant|first6=Sandra|last7=Giannini|first7=Caterina|date=2008-03|title=Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients|url=https://pubmed.ncbi.nlm.nih.gov/18344915|journal=Journal of Neuropathology and Experimental Neurology|volume=67|issue=3|pages=240–249|doi=10.1097/NEN.0b013e318165eb75|issn=0022-3069|pmc=3417064|pmid=18344915}}</ref>


== Additional Information[edit | edit source] ==
==Additional Information==
Put your text here
This disease is <u>defined/characterized</u> as detailed below:
 
*This is a distinct entity in the World Health Organization (WHO) classification system within the section of Gliomas, Glioneuronal and neuronal tumours. This is a well-differentiated glioneuronal tumour with low proliferative activity, comprised of mixed neoplastic neuronal and glial cell components. It is molecularly characterized by genomic aberrations causing MAPK pathway activation (CNS WHO grade 1)<ref name=":0" />.
 
The <u>epidemiology/prevalence</u> of this disease is detailed below:
 
*Gangliogliomas are generally tumours of adolescent/young adults with a median age of 12 years at the time of diagnosis. However, the tumour has been reported in wider range of age from 0 to 70 years of age<ref>{{Cite journal|last=Lang|first=Shih-Shan|last2=Beslow|first2=Lauren A.|last3=Gabel|first3=Brandon|last4=Judkins|first4=Alex R.|last5=Fisher|first5=Michael J.|last6=Sutton|first6=Leslie N.|last7=Storm|first7=Phillip B.|last8=Heuer|first8=Gregory G.|date=2012-07|title=Surgical treatment of brain tumors in infants younger than six months of age and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/22120270|journal=World Neurosurgery|volume=78|issue=1-2|pages=137–144|doi=10.1016/j.wneu.2011.09.012|issn=1878-8769|pmc=3292637|pmid=22120270}}</ref><ref name=":3">{{Cite journal|last=Blumcke|first=Ingmar|last2=Spreafico|first2=Roberto|last3=Haaker|first3=Gerrit|last4=Coras|first4=Roland|last5=Kobow|first5=Katja|last6=Bien|first6=Christian G.|last7=Pfäfflin|first7=Margarete|last8=Elger|first8=Christian|last9=Widman|first9=Guido|date=2017-10-26|title=Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery|url=https://pubmed.ncbi.nlm.nih.gov/29069555|journal=The New England Journal of Medicine|volume=377|issue=17|pages=1648–1656|doi=10.1056/NEJMoa1703784|issn=1533-4406|pmid=29069555}}</ref>. The tumour is more prevalent in male patients (59.8%) than in female patients (40.2%)<ref>{{Cite journal|last=Dudley|first=Roy W. R.|last2=Torok|first2=Michelle R.|last3=Gallegos|first3=Danielle R.|last4=Mulcahy-Levy|first4=Jean M.|last5=Hoffman|first5=Lindsey M.|last6=Liu|first6=Arthur K.|last7=Handler|first7=Michael H.|last8=Hankinson|first8=Todd C.|date=2015-03|title=Pediatric low-grade ganglioglioma: epidemiology, treatments, and outcome analysis on 348 children from the surveillance, epidemiology, and end results database|url=https://pubmed.ncbi.nlm.nih.gov/25603107|journal=Neurosurgery|volume=76|issue=3|pages=313–319; discussion 319; quiz 319–320|doi=10.1227/NEU.0000000000000619|issn=1524-4040|pmc=4333003|pmid=25603107}}</ref>.
 
The <u>clinical features</u> of this disease are detailed below:
 
*The clinical features are dependent on the tumour location and size. If located in the cerebrum, the most common presentation is with focal seizures<ref name=":0" /><ref name=":1">{{Cite journal|last=Prayson|first=R. A.|last2=Khajavi|first2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors|url=https://pubmed.ncbi.nlm.nih.gov/7541447|journal=Journal of Neuropathology and Experimental Neurology|volume=54|issue=4|pages=513–520|doi=10.1097/00005072-199507000-00005|issn=0022-3069|pmid=7541447}}</ref>, with up to 23.6% of surgical epilepsy specimens harbouring gangliogliomas<ref>{{Cite journal|last=Blumcke|first=Ingmar|last2=Spreafico|first2=Roberto|last3=Haaker|first3=Gerrit|last4=Coras|first4=Roland|last5=Kobow|first5=Katja|last6=Bien|first6=Christian G.|last7=Pfäfflin|first7=Margarete|last8=Elger|first8=Christian|last9=Widman|first9=Guido|date=2017-10-26|title=Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery|url=https://pubmed.ncbi.nlm.nih.gov/29069555|journal=The New England Journal of Medicine|volume=377|issue=17|pages=1648–1656|doi=10.1056/NEJMoa1703784|issn=1533-4406|pmid=29069555}}</ref>. The mean duration of symptoms prior to diagnosis is also dependent on location. For tumours located in the cerebrum, the duration of symptoms prior to diagnosis ranges between 5 and 10 years, whereas in the brainstem and spinal cord, the mean duration of symptoms pre-diagnosis ranges between 1.25 years and 1.4 years, respectively<ref name=":1" /><ref name=":4">{{Cite journal|last=Lang|first=F. F.|last2=Epstein|first2=F. J.|last3=Ransohoff|first3=J.|last4=Allen|first4=J. C.|last5=Wisoff|first5=J.|last6=Abbott|first6=I. R.|last7=Miller|first7=D. C.|date=1993-12|title=Central nervous system gangliogliomas. Part 2: Clinical outcome|url=https://pubmed.ncbi.nlm.nih.gov/8246055|journal=Journal of Neurosurgery|volume=79|issue=6|pages=867–873|doi=10.3171/jns.1993.79.6.0867|issn=0022-3085|pmid=8246055}}</ref>.
*The archetypal radiological features are of a circumscribed, solid/cystic mass, although varied appearances are the norm, ranging from presentation as a small cyst to a solid mass<ref name=":2">{{Cite journal|last=Zhang|first=D.|last2=Henning|first2=T. D.|last3=Zou|first3=L.-G.|last4=Hu|first4=L.-B.|last5=Wen|first5=L.|last6=Feng|first6=X.-Y.|last7=Dai|first7=S.-H.|last8=Wang|first8=W.-X.|last9=Sun|first9=Q.-R.|date=2008-01|title=Intracranial ganglioglioma: clinicopathological and MRI findings in 16 patients|url=https://pubmed.ncbi.nlm.nih.gov/18068794|journal=Clinical Radiology|volume=63|issue=1|pages=80–91|doi=10.1016/j.crad.2007.06.010|issn=0009-9260|pmid=18068794}}</ref>.  Patterns of contrast enhancement can also vary, including enhancement of the cystic wall to a markedly enhanced nodule<ref name=":2" />.
*Signs and symptoms - Intracerebral ganglioglioma: Seizure; chronic temporal lobe epilepsy<ref name=":1" />; Brain stem ganglioglioma: blurry vision, loss of memory, syncope spells, cranial nerve deficits, headache, and gait instability<ref>{{Cite journal|last=Mpairamidis|first=Evriviadis|last2=Alexiou|first2=George A.|last3=Stefanaki|first3=Kalliopi|last4=Sfakianos|first4=George|last5=Prodromou|first5=Neofytos|date=2008-12|title=Brainstem ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/19073857|journal=Journal of Child Neurology|volume=23|issue=12|pages=1481–1483|doi=10.1177/0883073808319316|issn=1708-8283|pmid=19073857}}</ref>; Spinal cord ganglioglioma:  acute onset paraparesis<ref>{{Cite journal|last=Cruz|first=Thainá Zanon|last2=Ferreira-Pinto|first2=Pedro Henrique Costa|last3=Brito|first3=Ana Carolina Gonçalves|last4=Ururahy|first4=Leandro|last5=Sanchez|first5=Jefferson Trivino|last6=Nigri|first6=Flavio|date=2021|title=Ganglioglioma of the cervicothoracic spinal cord in a patient with neurofibromatosis type 1: A case report|url=https://pubmed.ncbi.nlm.nih.gov/34345454|journal=Surgical Neurology International|volume=12|pages=313|doi=10.25259/SNI_192_2021|issn=2229-5097|pmc=8326088|pmid=34345454}}</ref>
*Laboratory findings - Classic imaging features: T1 iso- to hypointense solid component, T2-hyperintense solid component with varied signal within the cystic component; nodule and cyst wall show variable contrast enhancement<ref name=":2" />
 
The <u>sites of involvement</u> of this disease are detailed below:
 
*Most common location: temporal lobes (>70%)<ref name=":1" /><ref name=":4" /><ref name=":5">{{Cite journal|last=Wolf|first=H. K.|last2=Müller|first2=M. B.|last3=Spänle|first3=M.|last4=Zentner|first4=J.|last5=Schramm|first5=J.|last6=Wiestler|first6=O. D.|date=1994|title=Ganglioglioma: a detailed histopathological and immunohistochemical analysis of 61 cases|url=https://pubmed.ncbi.nlm.nih.gov/7985497|journal=Acta Neuropathologica|volume=88|issue=2|pages=166–173|doi=10.1007/BF00294510|issn=0001-6322|pmid=7985497}}</ref>
*Other locations: cerebrum, brainstem, cerebellum, spinal cord, and optic nerves, lateral ventricle<ref name=":3" /><ref name=":1" /><ref name=":4" /><ref name=":5" />
 
The <u>morphologic features</u> of this disease are detailed below:
 
*Ganglioglioma is a biphasic tumor composed of a neoplastic neuronal and a neoplastic glial component<ref name=":3" /><ref name=":5" />. The neoplastic neuronal component is comprised of dysmorphic ganglion cells showing cytomegaly, binucleation and perimembranous aggregation of Nissl substance. Disorganized cytoarchitecture is also observed, with clustering of neurons. The neoplastic glial component can resemble a diffuse glioma or pilocytic astrocytoma; the glial component harbors the proliferative component of the tumor, which can show infiltration on microscopy. Proliferative activity is usually low to absent. The two components can be intermingled or geographically distinct. Other pertinent histological features include Rosenthal fibres, eosinophilic granular bodies and perivascular lymphoid infiltration<ref name=":3" /><ref name=":5" />. An association with focal cortical dysplasia is a commonly reported finding<ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Thom|first2=Maria|last3=Aronica|first3=Eleonora|last4=Armstrong|first4=Dawna D.|last5=Vinters|first5=Harry V.|last6=Palmini|first6=Andre|last7=Jacques|first7=Thomas S.|last8=Avanzini|first8=Giuliano|last9=Barkovich|first9=A. James|date=2011-01|title=The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission|url=https://pubmed.ncbi.nlm.nih.gov/21219302|journal=Epilepsia|volume=52|issue=1|pages=158–174|doi=10.1111/j.1528-1167.2010.02777.x|issn=1528-1167|pmc=3058866|pmid=21219302}}</ref>.
 
The <u>immunophenotype</u> of this disease is detailed below:
 
*Positive (universal) - CD34 expressed in expressed in ramified tumor cells<ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Wiestler|first2=Otmar D.|date=2002-07|title=Gangliogliomas: an intriguing tumor entity associated with focal epilepsies|url=https://pubmed.ncbi.nlm.nih.gov/12125736|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=7|pages=575–584|doi=10.1093/jnen/61.7.575|issn=0022-3069|pmid=12125736}}</ref>
*Neoplastic neuronal component – MAP2, neurofilament, synaptophysin, chromogranin A (No definitive markers for neoplastic neuronal component; Typical profile: chromogranin A+, NeuN-, synaptophysin+, neurofilament+, MAP2+ (but MAP2 - in glial component)<ref name=":0" /><ref>{{Cite journal|last=Blümcke|first=Ingmar|last2=Wiestler|first2=Otmar D.|date=2002-07|title=Gangliogliomas: an intriguing tumor entity associated with focal epilepsies|url=https://pubmed.ncbi.nlm.nih.gov/12125736|journal=Journal of Neuropathology and Experimental Neurology|volume=61|issue=7|pages=575–584|doi=10.1093/jnen/61.7.575|issn=0022-3069|pmid=12125736}}</ref>)
*Neoplastic glial component – GFAP, OLIG2 (MAP2 -) (Ki-67 <5%<ref>{{Cite journal|last=Prayson|first=R. A.|last2=Khajavi|first2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors|url=https://pubmed.ncbi.nlm.nih.gov/7541447|journal=Journal of Neuropathology and Experimental Neurology|volume=54|issue=4|pages=513–520|doi=10.1097/00005072-199507000-00005|issn=0022-3069|pmid=7541447}}</ref>)
*Positive (subset) - BRAF VE1 (+ in BRAF-mutant gangliogliomas)<ref name=":0" />
*Negative (universal) - IDH1 R132H, ATRX (normal retained pattern of staining)<ref name=":0" />
*Negative (subset) - BRAF VE1 (- in BRAF-wildtype gangliogliomas)<ref name=":0" />


==Links==
==Links==
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== Notes[edit | edit source] ==
==Notes[edit | edit source]==
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<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''Associate Editor'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.


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