CNS5:Diffuse hemispheric glioma, H3 G34-mutant: Difference between revisions
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|Subtype(s) | |Subtype(s) | ||
|Diffuse hemispheric glioma, H3 G34-mutant | |Diffuse hemispheric glioma, H3 G34-mutant | ||
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Oncogenic amplifications in G34-DHG have been shown to be negative prognostic markers, as documented below <ref name=":4" />. | Oncogenic amplifications in G34-DHG have been shown to be negative prognostic markers, as documented below <ref name=":4">{{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>. | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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|chromosome modification | |chromosome modification | ||
|p.G35R 94% | |p.G35R 94% | ||
p.G35V 6% <ref name=":3" /> | p.G35V 6% <ref name=":3">Ellison, DW, Korshunov A, Northcott PA, Taylor MD, Kaur K, Clifford SC. Medulloblastoma, WNT-activated. In: WHO Classification of Tumours Editorial Board. Central nervous system tumours. Lyon (France): International Agency for Research on Cancer; 2021. (WHO classification of tumours series, 5th ed.; vol. 6). <nowiki>https://publications.iarc.fr/601</nowiki>.</ref> | ||
|TP53 mutations 90%; | |TP53 mutations 90%; | ||
ATRX mutations 95% | ATRX mutations 95% | ||
MGMT promoter methylation 70%-74% <ref name=":1" /><ref name=":4" /> | MGMT promoter methylation 70%-74% <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><ref name=":4" /> | ||
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> | 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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*''MGMT'' promoter methylation can be assessed by methylation specific polymerase chain reaction analysis (bisulfite treated DNA undergoes real-time PCR)<br /> | *''MGMT'' promoter methylation can be assessed by methylation specific polymerase chain reaction analysis (bisulfite treated DNA undergoes real-time PCR)<br /> | ||
== Familial Forms == | ==Familial Forms== | ||
N/A | N/A | ||
== Additional Information == | ==Additional Information== | ||
This disease is <u>defined/characterized</u> as detailed below: | This disease is <u>defined/characterized</u> as detailed below: | ||
* Diffuse hemispheric glioma, H3 G34–mutant (G34-DHG) is a newly recognized tumor entity that is characterized by point mutations in the ''H3-3A'' (''H3-3A'') gene, encoding for histone variant H3.3 <ref name=":0">{{Cite journal|last=Schwartzentruber|first=Jeremy|last2=Korshunov|first2=Andrey|last3=Liu|first3=Xiao-Yang|last4=Jones|first4=David T. W.|last5=Pfaff|first5=Elke|last6=Jacob|first6=Karine|last7=Sturm|first7=Dominik|last8=Fontebasso|first8=Adam M.|last9=Quang|first9=Dong-Anh Khuong|date=2012-01-29|title=Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/22286061|journal=Nature|volume=482|issue=7384|pages=226–231|doi=10.1038/nature10833|issn=1476-4687|pmid=22286061}}</ref><ref>{{Cite journal|last=Wu|first=Gang|last2=Broniscer|first2=Alberto|last3=McEachron|first3=Troy A.|last4=Lu|first4=Charles|last5=Paugh|first5=Barbara S.|last6=Becksfort|first6=Jared|last7=Qu|first7=Chunxu|last8=Ding|first8=Li|last9=Huether|first9=Robert|date=2012-01-29|title=Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas|url=https://pubmed.ncbi.nlm.nih.gov/22286216|journal=Nature Genetics|volume=44|issue=3|pages=251–253|doi=10.1038/ng.1102|issn=1546-1718|pmc=3288377|pmid=22286216}}</ref>. Point mutations tend to be clustered at codon 34 including c.103G>A p.G35R (G34R), c.103G>C p.G35R (G34R), or rarely c.104G>T p.G35V (G34V) <ref name=":0" />. This distinct tumor entity is an aggressive glioma arising from the cerebral hemispheres. G34-DHG is designated as CNS WHO grade 4 in in the WHO 5th edition <ref name=":3" />. | |||
* Please note that historically, numbering of the amino acid sequences of histone genes has begun at the second codon, as the amino acid encoded by the first codon (methionine) is cleaved post-translationally. Therefore, H3.3 G34 represents the legacy nomenclature of what is now referred to as H3.3 G35 <ref>{{Cite journal|last=Leske|first=Henning|last2=Dalgleish|first2=Raymond|last3=Lazar|first3=Alexander J.|last4=Reifenberger|first4=Guido|last5=Cree|first5=Ian A.|date=2021-06|title=A common classification framework for histone sequence alterations in tumours: an expert consensus proposal|url=https://pubmed.ncbi.nlm.nih.gov/33779999|journal=The Journal of Pathology|volume=254|issue=2|pages=109–120|doi=10.1002/path.5666|issn=1096-9896|pmid=33779999}}</ref>. | |||
The <u>epidemiology/prevalence</u> of this disease is detailed below: | The <u>epidemiology/prevalence</u> of this disease is detailed below: | ||
* 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" />. Studies have shown that there is a gender difference with male to female ratio of 1.4:1 <ref name=":4" /><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>. | |||
The <u>clinical features</u> of this disease are detailed below: | The <u>clinical features</u> of this disease are detailed below: | ||
Signs and symptoms - | * Site dependent neurological symptoms including epileptic seizure, focal deficit, increased intracranial hypertension (headache, nausea and vomiting) <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|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>. | ||
* Signs and symptoms - epileptic seizure, focal deficit, increased intracranial hypertension | |||
The <u>sites of involvement</u> of this disease are detailed below: | |||
*sually involves cerebral hemispheres | |||
*Occasionally across the midline and disseminate to leptomeningeal structures. | |||
*MRI typically shows a bulky cortical mass, most commonly seen in the parietal or temporal lobe. Multifocal lesions and/or leptomeningeal dissemination can be seen along with necrosis, cysts, hemorrhage and calcification <ref name=":6">{{Cite journal|last=Vettermann|first=Franziska J.|last2=Felsberg|first2=Jörg|last3=Reifenberger|first3=Guido|last4=Hasselblatt|first4=Martin|last5=Forbrig|first5=Robert|last6=Berding|first6=Georg|last7=la Fougère|first7=Christian|last8=Galldiks|first8=Norbert|last9=Schittenhelm|first9=Jens|date=2018-12|title=Characterization of Diffuse Gliomas With Histone H3-G34 Mutation by MRI and Dynamic 18F-FET PET|url=https://pubmed.ncbi.nlm.nih.gov/30358620|journal=Clinical Nuclear Medicine|volume=43|issue=12|pages=895–898|doi=10.1097/RLU.0000000000002300|issn=1536-0229|pmid=30358620}}</ref>. | |||
The <u>morphologic features</u> of this disease are detailed below: | The <u>morphologic features</u> of this disease are detailed below: | ||
*Usually involves cerebral hemispheres | |||
*Occasionally across the midline and disseminate to leptomeningeal structures. | |||
*MRI typically shows a bulky cortical mass, most commonly seen in the parietal or temporal lobe. Multifocal lesions and/or leptomeningeal dissemination can be seen along with necrosis, cysts, hemorrhage and calcification <ref name=":6" /> | |||
The <u>immunophenotype</u> of this disease is detailed below: | |||
Positive ( | Positive (universal) - MAP2, FOXG1, p53 | ||
Positive (subset) - GFAP (GBM-like morphology), synaptophysin (embryonal-like morphology) | |||
Negative ( | Negative (universal) - ATRX, Olig2 | ||
== Links == | ==Links== | ||
None | None | ||