3,883
edits
Changes
mLine 100:
Line 100: − + Line 183:
Line 183: − + − + − + − + Line 192:
Line 192: − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + Line 376:
Line 376: − + − + − + Line 386:
Line 386: − + − + − + Line 394:
Line 394: − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + Line 432:
Line 432: − + − + − + Line 448:
Line 448: − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − + − +
Jennelleh moved page Ganglioglioma to CNS5:Ganglioglioma without leaving a redirect: Move to GTS5
| - also seen in PLNTY, ganglioglioma, and pilocytic astrocytoma; can distinguish by methylation signature<ref name=":0" />
| - also seen in PLNTY, ganglioglioma, and pilocytic astrocytoma; can distinguish by methylation signature<ref name=":0" />
- in-frame fusion<ref name=":6" />
- in-frame fusion<ref name=":6" />
|-
|-
|t(8;8)(p11.23;p11.22)<ref name=":6" /><ref name=":7" />
|t(8;8)(p11.23;p11.22)<ref name=":6" /><ref name=":7" />
{| class="wikitable"
{| class="wikitable"
|'''Chr # '''
|'''Chr # '''
|'''Gain/Loss/Amp/LOH'''
|'''Gain/Loss/Amp/LOH'''
|'''Minimal Region Genomic Coordinates [Genome Build]'''
|'''Minimal Region Genomic Coordinates [Genome Build]'''
|'''Minimal Region Cytoband'''
|'''Minimal Region Cytoband'''
|'''Diagnostic Significance (Yes, No or Unknown)'''
|'''Diagnostic Significance (Yes, No or Unknown)'''
|'''Prognostic Significance'''
|'''Prognostic Significance'''
|'''Therapeutic Significance'''
|'''Therapeutic Significance'''
'''(Yes, No or Unknown)'''
'''(Yes, No or Unknown)'''
|'''Notes'''
|'''Notes'''
|-
|-
|1
|1
|loss
|loss
|Chr1:1- 248956422
|Chr1:1- 248956422
<br />
<br />
|Chr1
|Chr1
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
| colspan="1" rowspan="20" |This constellation of chromosomal abnormalities was found in a case series of 40 gangliogliomas[8].
| colspan="1" rowspan="20" |This constellation of chromosomal abnormalities was found in a case series of 40 gangliogliomas[8].
It is unknown if the abnormalities are either diagnostic, prognostic or therapeutic.
It is unknown if the abnormalities are either diagnostic, prognostic or therapeutic.
|-
|-
|3
|3
|gain
|gain
|Chr3:1- 198295559
|Chr3:1- 198295559
<br />
<br />
|Chr3
|Chr3
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|4
|4
|gain
|gain
|Chr4:1- 190214555
|Chr4:1- 190214555
|Chr4
|Chr4
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|5
|5
|gain
|gain
|Chr5:1- 181538259
|Chr5:1- 181538259
|Chr5
|Chr5
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|6
|6
|gain
|gain
|Chr6:1- 170805979
|Chr6:1- 170805979
|Chr6
|Chr6
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|7
|7
|gain
|gain
|Chr7:1- 159345973
|Chr7:1- 159345973
|Chr7
|Chr7
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|8
|8
|gain
|gain
|Chr8:1- 145138636
|Chr8:1- 145138636
|Chr8
|Chr8
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|9
|9
|gain
|gain
|Chr9:1- 138394717
|Chr9:1- 138394717
|Chr9
|Chr9
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|10
|10
|loss (segmental)
|loss (segmental)
|Chr10:1- 133797422
|Chr10:1- 133797422
|Chr10
|Chr10
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|11
|11
|gain
|gain
|Chr11:1- 135086622
|Chr11:1- 135086622
|Chr11
|Chr11
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|12
|12
|gain
|gain
|Chr12:1- 133275309
|Chr12:1- 133275309
|Chr12
|Chr12
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|15
|15
|gain
|gain
|Chr15: 1- 101991189
|Chr15: 1- 101991189
|Chr15
|Chr15
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|16
|16
|Gain
|Gain
|Chr16:1-90338345
|Chr16:1-90338345
<br />
<br />
|Chr16
|Chr16
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|16
|16
|loss
|loss
|Chr16:1-90338345
|Chr16:1-90338345
<br />
<br />
|Chr16
|Chr16
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|17
|17
|loss
|loss
|Chr17:1- 83257441
|Chr17:1- 83257441
|Chr17
|Chr17
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|18
|18
|gain
|gain
|Chr18:1- 80373285
|Chr18:1- 80373285
|Chr18
|Chr18
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|19
|19
|gain
|gain
|Chr19:1- 58617616
|Chr19:1- 58617616
|Chr19
|Chr19
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|20
|20
|gain
|gain
|Chr20:1- 64444167
|Chr20:1- 64444167
|Chr20
|Chr20
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|21
|21
|gain
|gain
|Chr21:1- 46709983
|Chr21:1- 46709983
|Chr21
|Chr21
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|-
|-
|22
|22
|gain
|gain
|Chr22:1- 50818468
|Chr22:1- 50818468
|Chr22
|Chr22
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|}
|}
<br />
<br />
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
{| class="wikitable"
{| class="wikitable"
|'''Gene; Genetic Alteration'''
|'''Gene; Genetic Alteration'''
|'''Presumed Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other)'''
|'''Presumed Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other)'''
|'''Prevalence (COSMIC/ TCGA/Other)'''
|'''Prevalence (COSMIC/ TCGA/Other)'''
|'''Concomitant Mutations'''
|'''Concomitant Mutations'''
|'''Mutually Exclusive Mutations'''
|'''Mutually Exclusive Mutations'''
|'''Diagnostic Significance (Yes, No or Unknown)'''
|'''Diagnostic Significance (Yes, No or Unknown)'''
|'''Prognostic Significance'''
|'''Prognostic Significance'''
|'''Therapeutic Significance'''
|'''Therapeutic Significance'''
'''(Yes, No or Unknown)'''
'''(Yes, No or Unknown)'''
|'''Notes'''
|'''Notes'''
|-
|-
|''BRAF'' p.V600E<ref name=":0" /><ref name=":6" />
|''BRAF'' p.V600E<ref name=":0" /><ref name=":6" />
|oncogene
|oncogene
|10-60%<ref name=":0" />
|10-60%<ref name=":0" />
|Homozygous deletion of CDKN2A<ref name=":6" />[8]
|Homozygous deletion of CDKN2A<ref name=":6" />[8]
H3-3A p.K27M<ref>{{Cite journal|last=Pagès|first=Mélanie|last2=Beccaria|first2=Kevin|last3=Boddaert|first3=Nathalie|last4=Saffroy|first4=Raphaël|last5=Besnard|first5=Aurore|last6=Castel|first6=David|last7=Fina|first7=Frédéric|last8=Barets|first8=Doriane|last9=Barret|first9=Emilie|date=2018-01|title=Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/27984673|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=1|pages=103–111|doi=10.1111/bpa.12473|issn=1750-3639|pmc=8028391|pmid=27984673}}</ref>
H3-3A p.K27M<ref>{{Cite journal|last=Pagès|first=Mélanie|last2=Beccaria|first2=Kevin|last3=Boddaert|first3=Nathalie|last4=Saffroy|first4=Raphaël|last5=Besnard|first5=Aurore|last6=Castel|first6=David|last7=Fina|first7=Frédéric|last8=Barets|first8=Doriane|last9=Barret|first9=Emilie|date=2018-01|title=Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma|url=https://pubmed.ncbi.nlm.nih.gov/27984673|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=1|pages=103–111|doi=10.1111/bpa.12473|issn=1750-3639|pmc=8028391|pmid=27984673}}</ref>
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":10">{{Cite journal|last=Ryall|first=Scott|last2=Zapotocky|first2=Michal|last3=Fukuoka|first3=Kohei|last4=Nobre|first4=Liana|last5=Guerreiro Stucklin|first5=Ana|last6=Bennett|first6=Julie|last7=Siddaway|first7=Robert|last8=Li|first8=Christopher|last9=Pajovic|first9=Sanja|date=2020-04-13|title=Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/32289278|journal=Cancer Cell|volume=37|issue=4|pages=569–583.e5|doi=10.1016/j.ccell.2020.03.011|issn=1878-3686|pmc=7169997|pmid=32289278}}</ref>
|Yes<ref name=":10">{{Cite journal|last=Ryall|first=Scott|last2=Zapotocky|first2=Michal|last3=Fukuoka|first3=Kohei|last4=Nobre|first4=Liana|last5=Guerreiro Stucklin|first5=Ana|last6=Bennett|first6=Julie|last7=Siddaway|first7=Robert|last8=Li|first8=Christopher|last9=Pajovic|first9=Sanja|date=2020-04-13|title=Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas|url=https://pubmed.ncbi.nlm.nih.gov/32289278|journal=Cancer Cell|volume=37|issue=4|pages=569–583.e5|doi=10.1016/j.ccell.2020.03.011|issn=1878-3686|pmc=7169997|pmid=32289278}}</ref>
|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>
|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" />
|FDA-approved therapy includes dabrafenib-trametinib<ref name=":11" />
|-
|-
|''BRAF'' indel events: p.L505delinsLEYLS p.R506delinsRVLR p.R506delinsRSTQ p.T599_W604delinsTDG) <ref name=":6" />
|''BRAF'' indel events: p.L505delinsLEYLS p.R506delinsRVLR p.R506delinsRSTQ p.T599_W604delinsTDG) <ref name=":6" />
|oncogene
|oncogene
|10%<ref name=":6" />
|10%<ref name=":6" />
|
|
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Unknown
|Unknown
|Unknown
|Unknown
|
|
|-
|-
|''KRAS'' p.Q61K<ref name=":6" />
|''KRAS'' p.Q61K<ref name=":6" />
|oncogene
|oncogene
|5%<ref name=":6" />
|5%<ref name=":6" />
|
|
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|No<ref name=":6" /><ref name=":10" />
|No<ref name=":6" /><ref name=":10" />
|No
|No
|
|
|-
|-
|''FGFR2'' exon 17 splicesite mutation<ref name=":6" />
|''FGFR2'' exon 17 splicesite mutation<ref name=":6" />
|oncogene
|oncogene
|2.5%<ref name=":6" />
|2.5%<ref name=":6" />
<br />
<br />
|
|
|''KRAS, RAF1, NF1, FGFR1, and BRAF''<ref name=":6" />
|''KRAS, RAF1, NF1, FGFR1, and BRAF''<ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|No<ref name=":6" /><ref name=":10" />
|No<ref name=":6" /><ref name=":10" />
|No
|No
|<nowiki>- no FDA-approved anti-FGFR therapy for ganglioglioma at present </nowiki>
|<nowiki>- no FDA-approved anti-FGFR therapy for ganglioglioma at present </nowiki>
<br />
<br />
|-
|-
|''FGFR1'' p.N546K<ref name=":6" />
|''FGFR1'' p.N546K<ref name=":6" />
|oncogene
|oncogene
|2.5%<ref name=":6" />
|2.5%<ref name=":6" />
<br />
<br />
|''KRAS, RAF1,''
|''KRAS, RAF1,''
'' NF1, BRAF, and FGFR2''<ref name=":6" />
'' NF1, BRAF, and FGFR2''<ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|Yes<ref name=":0" /><ref name=":6" />
|No<ref name=":6" /><ref name=":10" />
|No<ref name=":6" /><ref name=":10" />
|No
|No
|<nowiki>- no FDA-approved anti-FGFR therapy for ganglioglioma at present </nowiki>
|<nowiki>- no FDA-approved anti-FGFR therapy for ganglioglioma at present </nowiki>
<br />
<br />
90% of gangliogliomas harbor genetic alterations activating the MAPK signaling pathway, with non-MAPK signaling seen in 10% of cases (e.g. ''ABL2::GAB2'' gene fusion)<ref name=":6" />.
90% of gangliogliomas harbor genetic alterations activating the MAPK signaling pathway, with non-MAPK signaling seen in 10% of cases (e.g. ''ABL2::GAB2'' gene fusion)<ref name=":6" />.
{| class="wikitable"
{| class="wikitable"
|'''Gene; Genetic Alteration'''
|'''Gene; Genetic Alteration'''
|'''Pathway'''
|'''Pathway'''
|'''Pathophysiologic Outcome'''
|'''Pathophysiologic Outcome'''
|-
|-
|BRAF; activating alterations
|BRAF; activating alterations
|MAPK signaling
|MAPK signaling
|Increased cell growth and proliferation
|Increased cell growth and proliferation
|-
|-
|RAF1; activating alterations
|RAF1; activating alterations
|MAPK signaling
|MAPK signaling
|Increase cell growth and proliferation
|Increase cell growth and proliferation
|-
|-
|KRAS; activating mutations
|KRAS; activating mutations
|MAPK signaling
|MAPK signaling
|Increase cell growth and proliferation
|Increase cell growth and proliferation
|-
|-
|NF1; inactivating mutations
|NF1; inactivating mutations
|MAPK signaling
|MAPK signaling
|Increase cell growth and proliferation
|Increase cell growth and proliferation
|-
|-
|FGFR1/2/3; activating alterations
|FGFR1/2/3; activating alterations
|MAPK signaling
|MAPK signaling
|Increase cell growth and proliferation
|Increase cell growth and proliferation
|}
|}
==Diagnostic Testing Methods==
==Diagnostic Testing Methods==
* Chromosome microarray
*Chromosome microarray
* Next generation sequencing
*Next generation sequencing
* DNA methylation profiling
*DNA methylation profiling
==Familial Forms==
==Familial Forms==