CNS5:Diffuse hemispheric glioma, H3 G34-mutant: Difference between revisions
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==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
Diffuse hemispheric glioma, H3 G34–mutant is characterized by point mutations in the ''H3-3A'' gene encoding for histone H3 | Diffuse hemispheric glioma, H3 G34–mutant (G34-DHG) is a newly recognized tumor entity that is characterized by point mutations in the ''H3-3A'' (''H3F3A'') 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" />. The distinct tumor entity is featured with aggressive glioma that arises from cerebral hemispheres and DHG is included in WHO 5th edition as CNS grade 4 tumor type. | ||
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
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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 <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>. 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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==Sites of Involvement== | ==Sites of Involvement== | ||
* Usually involves cerebral hemispheres | *Usually involves cerebral hemispheres | ||
* Occasionally across the midline and disseminate to leptomeningeal structures. | *Occasionally across the midline and disseminate to leptomeningeal structures. | ||
==Morphologic Features== | ==Morphologic Features== | ||