Progress in Neuro-Oncology
Online ISSN : 2187-0551
Print ISSN : 1880-0742
ISSN-L : 1880-0742
The significance of histone H3 K27M mutation in brain tumors
Akitake Mukasa
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2017 Volume 24 Issue 1 Pages 7-17


Recent studies on pediatric glioblastomas revealed recurrent mutations in genes encoding core histone H3. In particular, mutation in H3F3A, which encodes the histone variant H3.3, which results in replacement of 27th lysine residue in the histone tail by methionine (K27M), was shown to be frequent in gliomas located in the midline region of the central nervous system. Such gliomas include diffuse intrinsic pediatric glioma (DIPG), as well as thalamic and spinal glioma. The newly revised 2016 WHO classification defined the ‘diffuse midline glioma, H3 K27M–mutant’, based on this recently discovered mutation. In this review, I will discuss the molecular characteristics of H3 K27M mutation, and clinical features of brain tumors harboring this mutation.

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© 2017 Kinki Brain Tumor Pathology Conference
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