Compendium of Cancer Genome Aberrations

CNS5:Diffuse hemispheric glioma, H3 G34-mutant: Difference between revisions

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==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


G34-DHG is reported to account for approximately 15% of high grade gliomas (HGSs) and typically affect adolescents and young adults with a median age at diagnosis of 15.8 years old <ref>{{Cite journal|last=Picart|first=Thiébaud|last2=Barritault|first2=Marc|last3=Poncet|first3=Delphine|last4=Berner|first4=Lise-Prune|last5=Izquierdo|first5=Cristina|last6=Tabouret|first6=Emeline|last7=Figarella-Branger|first7=Dominique|last8=Idbaïh|first8=Ahmed|last9=Bielle|first9=Franck|date=2021-01|title=Characteristics of diffuse hemispheric gliomas, H3 G34-mutant in adults|url=https://pubmed.ncbi.nlm.nih.gov/34056608|journal=Neuro-Oncology Advances|volume=3|issue=1|pages=vdab061|doi=10.1093/noajnl/vdab061|issn=2632-2498|pmc=8156974|pmid=34056608}}</ref><ref>{{Cite journal|last=Crowell|first=Cameron|last2=Mata-Mbemba|first2=Daddy|last3=Bennett|first3=Julie|last4=Matheson|first4=Kara|last5=Mackley|first5=Michael|last6=Perreault|first6=Sébastien|last7=Erker|first7=Craig|date=2022-01|title=Systematic review of diffuse hemispheric glioma, H3 G34-mutant: Outcomes and associated clinical factors|url=https://pubmed.ncbi.nlm.nih.gov/36105387|journal=Neuro-Oncology Advances|volume=4|issue=1|pages=vdac133|doi=10.1093/noajnl/vdac133|issn=2632-2498|pmc=9466272|pmid=36105387}}</ref>. Studies have shown that there is a gender difference with male to female ratio of 1.4:1 <ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Capper|first2=David|last3=Reuss|first3=David|last4=Schrimpf|first4=Daniel|last5=Ryzhova|first5=Marina|last6=Hovestadt|first6=Volker|last7=Sturm|first7=Dominik|last8=Meyer|first8=Jochen|last9=Jones|first9=Chris|date=2016-01|title=Histologically distinct neuroepithelial tumors with histone 3 G34  mutation are molecularly similar and comprise a single nosologic  entity|url=https://pubmed.ncbi.nlm.nih.gov/26482474|journal=Acta Neuropathologica|volume=131|issue=1|pages=137–146|doi=10.1007/s00401-015-1493-1|issn=1432-0533|pmid=26482474}}</ref><ref>{{Cite journal|last=Mackay|first=Alan|last2=Burford|first2=Anna|last3=Carvalho|first3=Diana|last4=Izquierdo|first4=Elisa|last5=Fazal-Salom|first5=Janat|last6=Taylor|first6=Kathryn R.|last7=Bjerke|first7=Lynn|last8=Clarke|first8=Matthew|last9=Vinci|first9=Mara|date=2017-10-09|title=Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/28966033|journal=Cancer Cell|volume=32|issue=4|pages=520–537.e5|doi=10.1016/j.ccell.2017.08.017|issn=1878-3686|pmc=5637314|pmid=28966033}}</ref>.
G34-DHG is reported to account for approximately 15% of high grade gliomas (HGSs) and typically affect adolescents and young adults with a median age at diagnosis of 15.8 years old <ref>{{Cite journal|last=Picart|first=Thiébaud|last2=Barritault|first2=Marc|last3=Poncet|first3=Delphine|last4=Berner|first4=Lise-Prune|last5=Izquierdo|first5=Cristina|last6=Tabouret|first6=Emeline|last7=Figarella-Branger|first7=Dominique|last8=Idbaïh|first8=Ahmed|last9=Bielle|first9=Franck|date=2021-01|title=Characteristics of diffuse hemispheric gliomas, H3 G34-mutant in adults|url=https://pubmed.ncbi.nlm.nih.gov/34056608|journal=Neuro-Oncology Advances|volume=3|issue=1|pages=vdab061|doi=10.1093/noajnl/vdab061|issn=2632-2498|pmc=8156974|pmid=34056608}}</ref><ref name=":1">{{Cite journal|last=Crowell|first=Cameron|last2=Mata-Mbemba|first2=Daddy|last3=Bennett|first3=Julie|last4=Matheson|first4=Kara|last5=Mackley|first5=Michael|last6=Perreault|first6=Sébastien|last7=Erker|first7=Craig|date=2022-01|title=Systematic review of diffuse hemispheric glioma, H3 G34-mutant: Outcomes and associated clinical factors|url=https://pubmed.ncbi.nlm.nih.gov/36105387|journal=Neuro-Oncology Advances|volume=4|issue=1|pages=vdac133|doi=10.1093/noajnl/vdac133|issn=2632-2498|pmc=9466272|pmid=36105387}}</ref>. Studies have shown that there is a gender difference with male to female ratio of 1.4:1 <ref>{{Cite journal|last=Korshunov|first=Andrey|last2=Capper|first2=David|last3=Reuss|first3=David|last4=Schrimpf|first4=Daniel|last5=Ryzhova|first5=Marina|last6=Hovestadt|first6=Volker|last7=Sturm|first7=Dominik|last8=Meyer|first8=Jochen|last9=Jones|first9=Chris|date=2016-01|title=Histologically distinct neuroepithelial tumors with histone 3 G34  mutation are molecularly similar and comprise a single nosologic  entity|url=https://pubmed.ncbi.nlm.nih.gov/26482474|journal=Acta Neuropathologica|volume=131|issue=1|pages=137–146|doi=10.1007/s00401-015-1493-1|issn=1432-0533|pmid=26482474}}</ref><ref>{{Cite journal|last=Mackay|first=Alan|last2=Burford|first2=Anna|last3=Carvalho|first3=Diana|last4=Izquierdo|first4=Elisa|last5=Fazal-Salom|first5=Janat|last6=Taylor|first6=Kathryn R.|last7=Bjerke|first7=Lynn|last8=Clarke|first8=Matthew|last9=Vinci|first9=Mara|date=2017-10-09|title=Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma|url=https://pubmed.ncbi.nlm.nih.gov/28966033|journal=Cancer Cell|volume=32|issue=4|pages=520–537.e5|doi=10.1016/j.ccell.2017.08.017|issn=1878-3686|pmc=5637314|pmid=28966033}}</ref>.


==Clinical Features==
==Clinical Features==
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==Immunophenotype==
==Immunophenotype==
<br />


{| class="wikitable sortable"
{| class="wikitable sortable"
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==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==


Put your text here and fill in the table
Not applicable


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|N/A||N/A
EXAMPLE 30% (add reference)
|N/A
|Yes
|N/A
|No
|N/A
|Yes
|N/A
|EXAMPLE
|N/A
 
|N/A
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==


Put your text here and fill in the table
<br />


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|EXAMPLE
|N/A
 
|N/A
7
|N/A
|EXAMPLE Loss
|N/A
|EXAMPLE
|N/A
 
|N/A
chr7:1- 159,335,973 [hg38]
|N/A
|EXAMPLE
|N/A
 
chr7
|Yes
|Yes
|No
|EXAMPLE
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
|-
|-
|EXAMPLE
|
 
|
8
|
|EXAMPLE Gain
|
|EXAMPLE
|
 
|
chr8:1-145,138,636 [hg38]
|
|EXAMPLE
|
 
chr8
|No
|No
|No
|EXAMPLE
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
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!Notes
!Notes
|-
|-
|EXAMPLE
|N/A
 
|N/A
Co-deletion of 1p and 18q
|N/A
|Yes
|N/A
|No
|N/A
|No
|EXAMPLE:
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
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!Notes
!Notes
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|H3F3A
|p.G34R/V
|all of this cateogory
|TP53 inactivation mutations 83%;
ATRX mutations 93%


EXAMPLE:
MGMT promoter methylation 70% <ref name=":1" />
 
|IDH
EGFR; Exon 20 mutations
TERT
 
|Yes
EXAMPLE: BRAF; Activating mutations
|EXAMPLE: TSG
|EXAMPLE: 20% (COSMIC)
 
EXAMPLE: 30% (add Reference)
|EXAMPLE: IDH1 R123H
|EXAMPLE: EGFR amplification
|
|
|
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
<br />
|}
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
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==Epigenomic Alterations==
==Epigenomic Alterations==


Put your text here
H3.3 G34R/V/D mutations impair di- or tri- methylation of lysine 36 by blocking the access to its lysine methyltransferase (e.g. SETD2) <ref>{{Cite journal|last=Shi|first=Leilei|last2=Shi|first2=Jiejun|last3=Shi|first3=Xiaobing|last4=Li|first4=Wei|last5=Wen|first5=Hong|date=2018-05-25|title=Histone H3.3 G34 Mutations Alter Histone H3K36 and H3K27 Methylation In Cis|url=https://pubmed.ncbi.nlm.nih.gov/29689253|journal=Journal of Molecular Biology|volume=430|issue=11|pages=1562–1565|doi=10.1016/j.jmb.2018.04.014|issn=1089-8638|pmc=6450091|pmid=29689253}}</ref>. This attenuated interaction between SETD2 and H3 K36 alters genome wide methylation level and promote tumorigenesis.


==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
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