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Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas |
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| Authors: | Wu Gang Broniscer Alberto McEachron Troy A Lu Charles Paugh Barbara S Becksfort Jared Qu Chunxu Ding Li Huether Robert Parker Matthew Zhang Junyuan Gajjar Amar Dyer Michael A Mullighan Charles G Gilbertson Richard J Mardis Elaine R Wilson Richard K Downing James R Ellison David W Zhang Jinghui Baker Suzanne J;St Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project |
| Affiliation: | Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. |
| Abstract: | 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. |
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