Title |
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma
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Published in |
Nature Genetics, April 2014
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DOI | 10.1038/ng.2938 |
Pubmed ID | |
Abstract |
Pediatric high-grade glioma (HGG) is a devastating disease with a less than 20% survival rate 2 years after diagnosis. We analyzed 127 pediatric HGGs, including diffuse intrinsic pontine gliomas (DIPGs) and non-brainstem HGGs (NBS-HGGs), by whole-genome, whole-exome and/or transcriptome sequencing. We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs. Structural variants generating fusion genes were found in 47% of DIPGs and NBS-HGGs, with recurrent fusions involving the neurotrophin receptor genes NTRK1, NTRK2 and NTRK3 in 40% of NBS-HGGs in infants. Mutations targeting receptor tyrosine kinase-RAS-PI3K signaling, histone modification or chromatin remodeling, and cell cycle regulation were found in 68%, 73% and 59% of pediatric HGGs, respectively, including in DIPGs and NBS-HGGs. This comprehensive analysis provides insights into the unique and shared pathways driving pediatric HGG within and outside the brainstem. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 25% |
United Kingdom | 1 | 13% |
France | 1 | 13% |
Belgium | 1 | 13% |
Australia | 1 | 13% |
Unknown | 2 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 50% |
Scientists | 2 | 25% |
Science communicators (journalists, bloggers, editors) | 2 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | <1% |
Germany | 2 | <1% |
Netherlands | 2 | <1% |
France | 2 | <1% |
Spain | 2 | <1% |
Japan | 2 | <1% |
Sweden | 1 | <1% |
Czechia | 1 | <1% |
Belgium | 1 | <1% |
Other | 3 | <1% |
Unknown | 607 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 122 | 19% |
Researcher | 121 | 19% |
Student > Bachelor | 56 | 9% |
Other | 47 | 7% |
Student > Master | 46 | 7% |
Other | 113 | 18% |
Unknown | 124 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 149 | 24% |
Biochemistry, Genetics and Molecular Biology | 141 | 22% |
Agricultural and Biological Sciences | 102 | 16% |
Neuroscience | 29 | 5% |
Pharmacology, Toxicology and Pharmaceutical Science | 17 | 3% |
Other | 45 | 7% |
Unknown | 146 | 23% |