@@ Line 100: / Line 100: @@
 | - also seen in PLNTY, ganglioglioma, and pilocytic astrocytoma; can distinguish by methylation signature<ref name=":0" />
 - in-frame fusion<ref name=":6" />
 |-
 |t(8;8)(p11.23;p11.22)<ref name=":6" /><ref name=":7" />
@@ Line 183: / Line 183: @@
 {| class="wikitable"
 |'''Chr #  '''
 |'''Gain/Loss/Amp/LOH'''
 |'''Minimal Region Genomic Coordinates [Genome Build]'''
 |'''Minimal Region Cytoband'''
 |'''Diagnostic Significance (Yes, No or Unknown)'''
 |'''Prognostic Significance'''
@@ Line 192: / Line 192: @@
 |'''Therapeutic Significance'''
 '''(Yes, No or Unknown)'''
 |'''Notes'''
 |-
 |1
 |loss
 |Chr1:1- 248956422
 <br />
 |Chr1
 |Unknown
 |Unknown
 |Unknown
 | 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.
 |-
 |3
 |gain
 |Chr3:1- 198295559
 <br />
 |Chr3
 |Unknown
 |Unknown
 |Unknown
 |-
 |4
 |gain
 |Chr4:1- 190214555
 |Chr4
 |Unknown
 |Unknown
 |Unknown
 |-
 |5
 |gain
 |Chr5:1- 181538259
 |Chr5
 |Unknown
 |Unknown
 |Unknown
 |-
 |6
 |gain
 |Chr6:1- 170805979
 |Chr6
 |Unknown
 |Unknown
 |Unknown
 |-
 |7
 |gain
 |Chr7:1- 159345973
 |Chr7
 |Unknown
 |Unknown
 |Unknown
 |-
 |8
 |gain
 |Chr8:1- 145138636
 |Chr8
 |Unknown
 |Unknown
 |Unknown
 |-
 |9
 |gain
 |Chr9:1- 138394717
 |Chr9
 |Unknown
 |Unknown
 |Unknown
 |-
 |10
 |loss (segmental)
 |Chr10:1- 133797422
 |Chr10
 |Unknown
 |Unknown
 |Unknown
 |-
 |11
 |gain
 |Chr11:1- 135086622
 |Chr11
 |Unknown
 |Unknown
 |Unknown
 |-
 |12
 |gain
 |Chr12:1- 133275309
 |Chr12
 |Unknown
 |Unknown
 |Unknown
 |-
 |15
 |gain
 |Chr15: 1- 101991189
 |Chr15
 |Unknown
 |Unknown
 |Unknown
 |-
 |16
 |Gain
 |Chr16:1-90338345
 <br />
 |Chr16
 |Unknown
 |Unknown
 |Unknown
 |-
 |16
 |loss
 |Chr16:1-90338345
 <br />
 |Chr16
 |Unknown
 |Unknown
 |Unknown
 |-
 |17
 |loss
 |Chr17:1- 83257441
 |Chr17
 |Unknown
 |Unknown
 |Unknown
 |-
 |18
 |gain
 |Chr18:1- 80373285
 |Chr18
 |Unknown
 |Unknown
 |Unknown
 |-
 |19
 |gain
 |Chr19:1- 58617616
 |Chr19
 |Unknown
 |Unknown
 |Unknown
 |-
 |20
 |gain
 |Chr20:1- 64444167
 |Chr20
 |Unknown
 |Unknown
 |Unknown
 |-
 |21
 |gain
 |Chr21:1- 46709983
 |Chr21
 |Unknown
 |Unknown
 |Unknown
 |-
 |22
 |gain
 |Chr22:1- 50818468
 |Chr22
 |Unknown
 |Unknown
 |Unknown
 |}
 <br />
 ==Gene Mutations (SNV/INDEL)==
 {| class="wikitable"
 |'''Gene; Genetic Alteration'''
 |'''Presumed Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other)'''
 |'''Prevalence (COSMIC/ TCGA/Other)'''
 |'''Concomitant Mutations'''
 |'''Mutually Exclusive Mutations'''
 |'''Diagnostic Significance (Yes, No or Unknown)'''
 |'''Prognostic Significance'''
@@ Line 376: / Line 376: @@
 |'''Therapeutic Significance'''
 '''(Yes, No or Unknown)'''
 |'''Notes'''
 |-
 |''BRAF'' p.V600E<ref name=":0" /><ref name=":6" />
 |oncogene
 |10-60%<ref name=":0" />
 |Homozygous deletion of CDKN2A<ref name=":6" />[8]
@@ Line 386: / Line 386: @@
 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" />
 |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=":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" />
@@ Line 394: / Line 394: @@
 |-
 |''BRAF'' indel events: p.L505delinsLEYLS p.R506delinsRVLR p.R506delinsRSTQ p.T599_W604delinsTDG) <ref name=":6" />
 |oncogene
 |10%<ref name=":6" />
 |
 |''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
 |Yes<ref name=":0" /><ref name=":6" />
 |Unknown
 |Unknown
 |
 |-
 |''KRAS'' p.Q61K<ref name=":6" />
 |oncogene
 |5%<ref name=":6" />
 |
 |''KRAS, RAF1, NF1, FGFR1, and FGFR2''<ref name=":6" />
 |Yes<ref name=":0" /><ref name=":6" />
 |No<ref name=":6" /><ref name=":10" />
 |No
 |
 |-
 |''FGFR2'' exon 17 splicesite mutation<ref name=":6" />
 |oncogene
 |2.5%<ref name=":6" />
 <br />
 |
 |''KRAS, RAF1, NF1, FGFR1, and BRAF''<ref name=":6" />
 |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>
 <br />
 |-
 |''FGFR1'' p.N546K<ref name=":6" />
 |oncogene
 |2.5%<ref name=":6" />
 <br />
@@ Line 432: / Line 432: @@
 |''KRAS, RAF1,''
 '' NF1, BRAF, and FGFR2''<ref name=":6" />
 |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>
 <br />
@@ Line 448: / Line 448: @@
 % 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"
 |'''Gene; Genetic Alteration'''
 |'''Pathway'''
 |'''Pathophysiologic Outcome'''
 |-
 |BRAF; activating alterations
 |MAPK signaling
 |Increased cell growth and proliferation
 |-
 |RAF1; activating alterations
 |MAPK signaling
 |Increase cell growth and proliferation
 |-
 |KRAS; activating mutations
 |MAPK signaling
 |Increase cell growth and proliferation
 |-
 |NF1; inactivating mutations
 |MAPK signaling
 |Increase cell growth and proliferation
 |-
 |FGFR1/2/3; activating alterations
 |MAPK signaling
 |Increase cell growth and proliferation
 |}
 ==Diagnostic Testing Methods==
-* Chromosome microarray
+*Chromosome microarray
-* Next generation sequencing
+*Next generation sequencing
-* DNA methylation profiling
+*DNA methylation profiling
 ==Familial Forms==

CNS5:Ganglioglioma: Difference between revisions