Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas
Menée sur 50 échantillons tumoraux prélevés sur des patients atteints d'un gliome diffus intrinsèque du pont et sur 36 échantillons prélevés sur des patients pédiatriques atteints d'un glioblastome hors du tronc cérébral, cette étude de séquençage évalue la fréquence des mutations somatiques d'un gène codant une histone H3
To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p.Gly34Arg alteration.