Line 130: |
Line 130: |
| |N/A | | |N/A |
| |} | | |} |
− | ==Gene Mutations (SNV/INDEL)== | + | ==Gene Mutations (SNV/INDEL/Methylation)== |
| | | |
| Put your text here and fill in the table | | Put your text here and fill in the table |
Line 142: |
Line 142: |
| !Notes | | !Notes |
| |- | | |- |
− | |H3F3A | + | |H3F3A p.G35R/V |
− | |p.G34R/V
| + | |chromosome modification |
− | |all of this cateogory | + | |p.G35R 94% |
− | |TP53 inactivation mutations 83%; | + | p.G35V 6% |
− | ATRX mutations 93% | + | |TP53 inactivation mutations 90%; |
| + | ATRX mutations 95% |
| | | |
| MGMT promoter methylation 70% <ref name=":1" /> | | MGMT promoter methylation 70% <ref name=":1" /> |
− | |IDH | + | |
| + | PDGFRA 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> |
| + | |IDH1 |
| + | IDH2 |
| + | |
| + | H3 p.K28M/I <ref>{{Cite journal|last=Sturm|first=Dominik|last2=Witt|first2=Hendrik|last3=Hovestadt|first3=Volker|last4=Khuong-Quang|first4=Dong-Anh|last5=Jones|first5=David T. W.|last6=Konermann|first6=Carolin|last7=Pfaff|first7=Elke|last8=Tönjes|first8=Martje|last9=Sill|first9=Martin|date=2012-10-16|title=Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/23079654|journal=Cancer Cell|volume=22|issue=4|pages=425–437|doi=10.1016/j.ccr.2012.08.024|issn=1878-3686|pmid=23079654}}</ref> |
| TERT | | TERT |
| |Yes | | |Yes |
| + | | |
| + | | |
| + | | |
| + | |- |
| + | |MGMT |
| + | |promoter methylation |
| + | | |
| + | | |
| + | | |
| + | | |
| | | | | |
| | | | | |
Line 160: |
Line 176: |
| ==Epigenomic Alterations== | | ==Epigenomic Alterations== |
| | | |
− | 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. | + | * H3.3 G34R/V/D mutations impair di- or tri- methylation of lysine 36 by blocking the access to its lysine methyltransferase SETD2 and lysine demethylase KDM2A <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><ref>{{Cite journal|last=Cheng|first=Zhongjun|last2=Cheung|first2=Peggie|last3=Kuo|first3=Alex J.|last4=Yukl|first4=Erik T.|last5=Wilmot|first5=Carrie M.|last6=Gozani|first6=Or|last7=Patel|first7=Dinshaw J.|date=2014-08-15|title=A molecular threading mechanism underlies Jumonji lysine demethylase KDM2A regulation of methylated H3K36|url=https://pubmed.ncbi.nlm.nih.gov/25128496|journal=Genes & Development|volume=28|issue=16|pages=1758–1771|doi=10.1101/gad.246561.114|issn=1549-5477|pmc=4197961|pmid=25128496}}</ref>. This attenuated interaction alters genome wide methylation level and promote tumorigenesis. |
| + | * G34-DHG demonstrates global hypomethylation pattern but MGMT promoter is frequently methylated <ref>{{Cite journal|last=Sturm|first=Dominik|last2=Witt|first2=Hendrik|last3=Hovestadt|first3=Volker|last4=Khuong-Quang|first4=Dong-Anh|last5=Jones|first5=David T. W.|last6=Konermann|first6=Carolin|last7=Pfaff|first7=Elke|last8=Tönjes|first8=Martje|last9=Sill|first9=Martin|date=2012-10-16|title=Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma|url=https://pubmed.ncbi.nlm.nih.gov/23079654|journal=Cancer Cell|volume=22|issue=4|pages=425–437|doi=10.1016/j.ccr.2012.08.024|issn=1878-3686|pmid=23079654}}</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><ref>{{Cite journal|last=Wan|first=Yi Ching Esther|last2=Liu|first2=Jiaxian|last3=Chan|first3=Kui Ming|date=2018|title=Histone H3 Mutations in Cancer|url=https://pubmed.ncbi.nlm.nih.gov/30101054|journal=Current Pharmacology Reports|volume=4|issue=4|pages=292–300|doi=10.1007/s40495-018-0141-6|issn=2198-641X|pmc=6061380|pmid=30101054}}</ref> |
| | | |
| ==Genes and Main Pathways Involved== | | ==Genes and Main Pathways Involved== |
Line 173: |
Line 190: |
| |EXAMPLE: Increased cell growth and proliferation | | |EXAMPLE: Increased cell growth and proliferation |
| |- | | |- |
− | |EXAMPLE: CDKN2A; Inactivating mutations | + | |MGMT; promoter methylatioin |
| |EXAMPLE: Cell cycle regulation | | |EXAMPLE: Cell cycle regulation |
| |EXAMPLE: Unregulated cell division | | |EXAMPLE: Unregulated cell division |