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

{{DISPLAYTITLE:Diffuse hemispheric glioma, H3 G34-mutant}}

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Xiaolin Hu, PhD, Sema4 OpCo Inc.

==WHO Classification of Disease==

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==Gene Rearrangements==

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!Established Clinical Significance Per Guidelines - Yes or No (Source)

!Clinical Relevance Details/Other Notes

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==Individual Region Genomic Gain/Loss/LOH==

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|<span class="blue-text">EXAMPLE:</span>

'''Add content below into table above''' -        

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|14% case of G34-DHG <ref name=":5" />

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==Characteristic Chromosomal or Other Global Mutational Patterns==

Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>

!Chromosomal Pattern

!Molecular Pathogenesis

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|<span class="blue-text">EXAMPLE:</span>

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|Found in 44% of cases of G34-DHG <ref name=":5" />

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==Gene Mutations (SNV/INDEL)==

Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>

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|<span class="blue-text">EXAMPLE:</span>''EGFR''

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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

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!Prognostic Significance (Yes, No or Unknown)

!Therapeutic Significance (Yes, No or Unknown)

|chromosome modification

|p.G35R 94%

|TP53 mutations 90%;

ATRX mutations 95%

PDGFRA mutations 50-70%<ref>{{Cite journal|last=Chen|first=Carol C. L.|last2=Deshmukh|first2=Shriya|last3=Jessa|first3=Selin|last4=Hadjadj|first4=Djihad|last5=Lisi|first5=Véronique|last6=Andrade|first6=Augusto Faria|last7=Faury|first7=Damien|last8=Jawhar|first8=Wajih|last9=Dali|first9=Rola|date=2020-12-10|title=Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis|url=https://pubmed.ncbi.nlm.nih.gov/33259802|journal=Cell|volume=183|issue=6|pages=1617–1633.e22|doi=10.1016/j.cell.2020.11.012|issn=1097-4172|pmc=7791404|pmid=33259802}}</ref> <ref>{{Cite journal|last=Lucas|first=Calixto-Hope G.|last2=Mueller|first2=Sabine|last3=Reddy|first3=Alyssa|last4=Taylor|first4=Jennie W.|last5=Oberheim Bush|first5=Nancy Ann|last6=Clarke|first6=Jennifer L.|last7=Chang|first7=Susan M.|last8=Gupta|first8=Nalin|last9=Berger|first9=Mitchel S.|date=2021-11-02|title=Diffuse hemispheric glioma, H3 G34-mutant: Genomic landscape of a new tumor entity and prospects for targeted therapy|url=https://pubmed.ncbi.nlm.nih.gov/34519829|journal=Neuro-Oncology|volume=23|issue=11|pages=1974–1976|doi=10.1093/neuonc/noab184|issn=1523-5866|pmc=8628364|pmid=34519829}}</ref>

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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.

==Epigenomic Alterations==

|Facilitate alternative  lengthening of telomeres

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==Genetic Diagnostic Testing Methods==

*Pan-cancer sequencing will likely detect concurrent mutations in ''TP53, ATRX, PDGFRA'' etc.

*DNA methylation and gene expression profiling can be used to differentiate G34-DHG with other glioma subgroups.

N/A

This disease is <u>defined/characterized</u> as detailed below:

The <u>clinical features</u> of this disease are detailed below:

The <u>morphologic features</u> of this disease are detailed below:

None

==Notes==

[[Category:DISEASE]]

[[Category:Diseases D]]