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CNS5:Diffuse hemispheric glioma, H3 G34-mutant (view source)
Revision as of 11:54, 16 January 2023
, 11:54, 16 January 2023→Genetic Diagnostic Testing Methods
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
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* 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.
* 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 />
==Familial Forms==
==Familial Forms==