CNS5:Diffuse hemispheric glioma, H3 G34-mutant: Difference between revisions
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|Altered methylation and gene expression | |Altered methylation and gene expression | ||
|- | |- | ||
|MGMT; promoter | |MGMT; promoter methylation | ||
|DNA repair | |DNA repair | ||
|Sensitize tumor cells to chemo- or radiotherapy. | |Sensitize tumor cells to chemo- or radiotherapy. | ||
| Line 192: | Line 192: | ||
|TP53; mutation | |TP53; mutation | ||
|Genome guardian, apoptosis | |Genome guardian, apoptosis | ||
|Apoptosis | |Apoptosis resistance | ||
|- | |- | ||
|ATRX; mutation | |ATRX; mutation | ||
|Chromatin remodeling, alternative telomeres lengthening repression | |Chromatin remodeling, alternative telomeres lengthening repression | ||
| | |Facilitate alternative lengthening of telomeres | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
* Targeted sequencing to identify c.103G>A p.G35R (G34R), c.103G>C p.G35R (G34R), or c.104G>T p.G35V (G34V) is diagnostic for G34-DHG. | *Targeted sequencing to identify c.103G>A p.G35R (G34R), c.103G>C p.G35R (G34R), or c.104G>T p.G35V (G34V) is diagnostic for G34-DHG. | ||
* Pan-cancer sequencing will likely detect concurrent mutations in TP53, ATRX, PDGFRA etc. | *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. | *DNA methylation and gene expression profiling can be used to differentiate G34-DHG with other glioma subgroups. | ||
* 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== | ||