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Post‐treatment hypermutation in a recurrent diffuse glioma with H3.3 p.G34 Mutation

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Diffuse gliomas with H3F3A point mutations affecting histone H3.3 glycine position 34 are a distinct glioma subtype mostly occurring in the cerebral hemispheres of paediatric and young adult patients. These… Click to show full abstract

Diffuse gliomas with H3F3A point mutations affecting histone H3.3 glycine position 34 are a distinct glioma subtype mostly occurring in the cerebral hemispheres of paediatric and young adult patients. These tumours have a high rate of MGMT promoter hypermethylation, a predictive biomarker for response to the DNA alkylating agent temozolomide (TMZ). Post-treatment TMZ-associated hypermutation is a mechanism for TMZ resistance in recurrent isocitrate dehydrogenase (IDH) wildtype glioblastoma and may be seen in association with tumour progression in lower-grade IDH-mutant diffuse astrocytic gliomas.

Keywords: post treatment; diffuse; glioma; hypermutation

Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2020

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