Changes

==Epidemiology / Prevalence==

==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>{{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>.  

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==

==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>{{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 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" />.  

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'''  

|'''Signs and Symptoms'''

|Intracerebral ganglioglioma: Seizure; chronic temporal lobe epilepsy<ref name=":1" />

|Intracerebral ganglioglioma: Seizure; chronic temporal lobe epilepsy<ref name=":1" />

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>

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'''  

|'''Imaging 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" />

|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" />

|}

|}

==Sites of Involvement==

==Sites of Involvement==

Most common location: temporal lobes (>70%)[5,6,18]

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[3,5,6,18]  

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==

==Morphologic Features==

Ganglioglioma is a biphasic tumour composed of a neoplastic neuronal and a neoplastic glial component [3,18]. 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[3,18]. An association with focal cortical dysplasia is a commonly reported finding[19].  

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==

==Immunophenotype==

{| class="wikitable sortable"

{| class="wikitable sortable"

!Finding!!Marker

!Finding!!Marker

|-

|-

|Positive (universal)  

|Positive (universal)

|CD34 expressed in expressed in ramified tumor cells[21]

|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  

Neoplastic neuronal component – MAP2, neurofilament, synaptophysin, chromogranin A  

* No definitive markers for neoplastic neuronal component  

*No definitive markers for neoplastic neuronal component

* Typical profile: chromogranin A+, NeuN-, synaptophysin+, neurofilament+, MAP2+ (but MAP2 - in glial component)[1, 20]

*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 -)  

Neoplastic glial component – GFAP, OLIG2 (MAP2 -)  

* Ki-67 <5%[5]

*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)  

|Positive (subset)

|BRAF VE1 (+ in BRAF-mutant gangliogliomas)  

|BRAF VE1 (+ in BRAF-mutant gangliogliomas)<ref name=":0" />

|-

|-

|Negative (universal)  

|Negative (universal)

| IDH1 R132H, ATRX (normal retained pattern of staining)  

| IDH1 R132H, ATRX (normal retained pattern of staining)<ref name=":0" />

|-

|-

|Negative (subset)  

|Negative (subset)

|BRAF VE1 (- in BRAF-wildtype gangliogliomas)  

|BRAF VE1 (- in BRAF-wildtype gangliogliomas)<ref name=":0" />

|}

|}

==Chromosomal Rearrangements (Gene Fusions)==

==Chromosomal Rearrangements (Gene Fusions)==

{| class="wikitable"

{| class="wikitable"

|'''Chromosomal Rearrangement'''  

|'''Chromosomal Rearrangement'''

|'''Genes in Fusion'''  

|'''Genes in Fusion'''  

'''(5’ or 3’ Segments)'''  

'''(5’ or 3’ Segments)'''

|'''Structural variation'''  

|'''Structural variation'''

|'''Prevalence'''  

|'''Prevalence'''

|'''Diagnostic Significance (Yes, No or Unknown)'''  

|'''Diagnostic Significance (Yes, No or Unknown)'''

|'''Prognostic Significance (Yes, No or Unknown)'''  

|'''Prognostic Significance (Yes, No or Unknown)'''

|'''Therapeutic Significance (Yes, No or Unknown)'''  

|'''Therapeutic Significance (Yes, No or Unknown)'''

|'''Notes'''  

|'''Notes'''

|-

|-

|t(7;7)(q34;q34)[8,13]

|t(7;7)(q34;q34)<ref name=":6">{{Cite journal|last=Pekmezci|first=Melike|last2=Villanueva-Meyer|first2=Javier E.|last3=Goode|first3=Benjamin|last4=Van Ziffle|first4=Jessica|last5=Onodera|first5=Courtney|last6=Grenert|first6=James P.|last7=Bastian|first7=Boris C.|last8=Chamyan|first8=Gabriel|last9=Maher|first9=Ossama M.|date=2018-06-07|title=The genetic landscape of ganglioglioma|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992851/|journal=Acta Neuropathologica Communications|volume=6|pages=47|doi=10.1186/s40478-018-0551-z|issn=2051-5960|pmc=5992851|pmid=29880043}}</ref><ref name=":7">{{Cite journal|last=Kim|first=Pora|last2=Zhou|first2=Xiaobo|date=2018-11-08|title=FusionGDB: fusion gene annotation DataBase|url=http://dx.doi.org/10.1093/nar/gky1067|journal=Nucleic Acids Research|volume=47|issue=D1|pages=D994–D1004|doi=10.1093/nar/gky1067|issn=0305-1048}}</ref>

|''KIAA1549::BRAF [8, 9]''

|''KIAA1549::BRAF''<ref name=":6" /><ref name=":8">{{Cite journal|last=Appay|first=Romain|last2=Fina|first2=Frédéric|last3=Macagno|first3=Nicolas|last4=Padovani|first4=Laëtitia|last5=Colin|first5=Carole|last6=Barets|first6=Doriane|last7=Ordioni|first7=Joanna|last8=Scavarda|first8=Didier|last9=Giangaspero|first9=Felice|date=2018-10|title=Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas|url=https://pubmed.ncbi.nlm.nih.gov/29802359|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=31|issue=10|pages=1490–1501|doi=10.1038/s41379-018-0050-6|issn=1530-0285|pmid=29802359}}</ref>

|duplication  

|duplication  

|16.7 % [9]

|16.7%<ref name=":8" />

|Yes[1,8]

|Yes<ref name=":0" /><ref name=":6" />

|No  

|No

|Yes[22]

|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>

|<nowiki>- also seen in PLNTY, ganglioglioma, and pilocytic astrocytoma; can distinguish by methylation signature[1] </nowiki>

| - also seen in PLNTY, ganglioglioma, and pilocytic astrocytoma; can distinguish by methylation signature<ref name=":0" />

- in-frame fusion[8]

- in-frame fusion<ref name=":6" />

|-

|-

|t(8;8)(p11.23;p11.22)  

|t(8;8)(p11.23;p11.22)<ref name=":6" /><ref name=":7" />

|''FGFR1::TACC1 [8]''  

|''FGFR1::TACC1''<ref name=":6" />

|inversion  

|inversion

|2.5% (1/40)[8]

|2.5% (1/40)<ref name=":6" />

|Unknown  

|Unknown

|Unknown  

|Unknown

|Unknown  

|Unknown  

|<nowiki>- in-frame fusion[8] </nowiki>

| - in-frame fusion<ref name=":6" />

- no FDA-approved anti-FGFR therapy for ganglioglioma at present  

- no FDA-approved anti-FGFR therapy for ganglioglioma at present  

|-

|-

|t(10;10)(q26.13;q25.3) [8,13]

|t(10;10)(q26.13;q25.3)<ref name=":6" /><ref name=":7" />

|''FGFR2::KIAA1598 [8]''  

|deletion  

|2.5% (1/40)[8]  

|t(10;10) (q26.13;q24.3)<ref name=":6" /><ref name=":7" />

|''FGFR2::INA''<ref name=":6" />

|''ERC2::RAF1''<ref name=":6" />

|deletion

|2.5%(1/40)<ref name=":6" />

 

 

 

|'''Minimal Region Genomic Coordinates [Genome Build]'''

 

 

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|<nowiki>- in-frame fusion[8] </nowiki>

| colspan="1" rowspan="20" |This constellation of chromosomal abnormalities was found in a case series of 40 gangliogliomas[8].

 

<br />

<br />

|-

|-

|t(10;10) (q26.13;q24.3)[8,13]

|6

|''FGFR2::INA[8]''

|inversion

|2.5% (1/40) [8]

|10  

|loss (segmental)  

|Chr10:1- 133797422

|gain

|Chr11:1- 135086622

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|-

|-

|t(3;3)(p14.3;p25.2) [8,13]

|12

|''ERC2::RAF1[8]''

|gain

|deletion

|Chr12:1- 133275309

|2.5%(1/40) [8]

|Chr12

|Unknown

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|-

|-

|t(14;7)(q32.32;7q34) [8,13]  

|15

|''CDC42BPB::BRAF [8]'' 

|gain

|translocation

|Chr15: 1- 101991189

|2.5% (1/40) [8]

|Chr15

|Unknown

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|Yes (potential) [22]

|-

|<nowiki>- in-frame fusion[8] </nowiki>

|Chr16:1-90338345

<br />

<br />

|-

|-

|t(7;7)(p15.3;q34) [8,13]

|16

|''KLHL7::BRAF[8]''

|loss

|inversion

|Chr16:1-90338345

|2.5% (1/40) [8]

<br />

<br />

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|-

|-

|t(1;11)(q25.2;q14.1) [8,13]

|19

|''ABL2::GAB2[8]''

|translocation

|Chr19:1- 58617616

|2.5% (1/40) [8]

|Chr19

|Unknown

|Unknown  

|Unknown  

|Unknown  

|Unknown  

|-

|-

|-

|-

|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000

|21

|gain

|Chr21:1- 46709983

|Unknown

|Unknown

|-

|-

|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000

|22

|}

|Chr22

|Unknown

|Unknown

|Unknown

|}

==Gene Mutations (SNV/INDEL)==

==Gene Mutations (SNV/INDEL)==

Put your text here and/or fill in the tables

'''(Yes, No or Unknown)  '''

{| class="wikitable sortable"

|'''Notes'''

|-

|-

!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)

 

 

|Yes<ref name=":11">{{Cite journal|last=Kowalewski|first=Adam|last2=Durślewicz|first2=Justyna|last3=Zdrenka|first3=Marek|last4=Grzanka|first4=Dariusz|last5=Szylberg|first5=Łukasz|date=2020-08|title=Clinical Relevance of BRAF V600E Mutation Status in Brain Tumors with a Focus on a Novel Management Algorithm|url=https://pubmed.ncbi.nlm.nih.gov/32648041|journal=Targeted Oncology|volume=15|issue=4|pages=531–540|doi=10.1007/s11523-020-00735-9|issn=1776-260X|pmc=7434793|pmid=32648041}}</ref>

|FDA-approved therapy includes dabrafenib-trametinib<ref name=":11" />

<br />

|-

|-

|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%

|''BRAF'' indel events: p.L505delinsLEYLS p.R506delinsRVLR p.R506delinsRSTQ p.T599_W604delinsTDG) <ref name=":6" />

|}

|oncogene

|10%<ref name=":6" />

===Other Mutations===

|

{| class="wikitable sortable"

|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />

|Yes<ref name=":0" /><ref name=":6" />

|-

|-

!Type!!Gene/Region/Other

|''KRAS'' p.Q61K<ref name=":6" />

|5%<ref name=":6" />

|-

|-

|Concomitant Mutations||EXAMPLE IDH1 R123H

|''FGFR2'' exon 17 splicesite mutation<ref name=":6" />

|oncogene

|2.5%<ref name=":6" />

|-

|-

|Secondary Mutations||EXAMPLE Trisomy 7

|''FGFR1'' p.N546K<ref name=":6" />

|-

|Mutually Exclusive||EXAMPLE EGFR Amplification

|

|''KRAS, RAF1,''

 

|Yes<ref name=":0" /><ref name=":6" />

|No<ref name=":6" /><ref name=":10" />

|No

|<nowiki>- no FDA-approved anti-FGFR therapy for ganglioglioma at present </nowiki>

|}

|}

==Epigenomics (Methylation)==

==Epigenomics (Methylation)==

==Genes and Main Pathways Involved==

==Genes and Main Pathways Involved==

==Diagnostic Testing Methods==

==Diagnostic Testing Methods==

 

 

==Familial Forms==

==Familial Forms==

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>

 

==Other Information==

 

==Links==

==Links==

==References==

==References==

 

<references />

 

 

 

 

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