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The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

Wu, Gang ; Diaz, Alexander K ; Paugh, Barbara S ; Rankin, Sherri L ; Ju, Bensheng ; Li, Yongjin ; Zhu, Xiaoyan ; Qu, Chunxu ; Chen, Xiang ; Zhang, Junyuan ; Easton, John ; Edmonson, Michael ; Ma, Xiaotu ; Lu, Charles ; Nagahawatte, Panduka ; Hedlund, Erin ; Rusch, Michael ; Pounds, Stanley ; Lin, Tong ; Onar-Thomas, Arzu ; Huether, Robert ; Kriwacki, Richard ; Parker, Matthew ; Gupta, Pankaj ; Becksfort, Jared ; Wei, Lei ; Mulder, Heather L ; Boggs, Kristy ; Vadodaria, Bhavin ; Yergeau, Donald ; Russell, Jake C ; Ochoa, Kerri ; Fulton, Robert S ; Fulton, Lucinda L ; Jones, Chris ; Boop, Frederick A ; Broniscer, Alberto ; Wetmore, Cynthia ; Gajjar, Amar ; Ding, Li ; Mardis, Elaine R ; Wilson, Richard K ; Taylor, Michael R ; Downing, James R ; Ellison, David W ; Zhang, Jinghui ; Baker, Suzanne J

Nature genetics, 2014-05, Vol.46 (5), p.444-450 [Periódico revisado por pares]

United States: Nature Publishing Group

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Título:
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma
Autor: Wu, Gang ; Diaz, Alexander K ; Paugh, Barbara S ; Rankin, Sherri L ; Ju, Bensheng ; Li, Yongjin ; Zhu, Xiaoyan ; Qu, Chunxu ; Chen, Xiang ; Zhang, Junyuan ; Easton, John ; Edmonson, Michael ; Ma, Xiaotu ; Lu, Charles ; Nagahawatte, Panduka ; Hedlund, Erin ; Rusch, Michael ; Pounds, Stanley ; Lin, Tong ; Onar-Thomas, Arzu ; Huether, Robert ; Kriwacki, Richard ; Parker, Matthew ; Gupta, Pankaj ; Becksfort, Jared ; Wei, Lei ; Mulder, Heather L ; Boggs, Kristy ; Vadodaria, Bhavin ; Yergeau, Donald ; Russell, Jake C ; Ochoa, Kerri ; Fulton, Robert S ; Fulton, Lucinda L ; Jones, Chris ; Boop, Frederick A ; Broniscer, Alberto ; Wetmore, Cynthia ; Gajjar, Amar ; Ding, Li ; Mardis, Elaine R ; Wilson, Richard K ; Taylor, Michael R ; Downing, James R ; Ellison, David W ; Zhang, Jinghui ; Baker, Suzanne J
Assuntos: Activin Receptors, Type I - genetics ; Age ; Animals ; Bioinformatics ; Brain Stem Neoplasms - genetics ; Cancer ; Child ; Children & youth ; Cohort Studies ; Computational Biology ; Gene Expression Profiling ; Gene Fusion - genetics ; Genes ; Genetic aspects ; Genetic research ; Genomes ; Genomics ; Glioma - genetics ; Gliomas ; Humans ; Immunoblotting ; Immunohistochemistry ; Kinases ; Medical prognosis ; Microarray Analysis ; Mutation ; Pediatrics ; Receptor, trkA - genetics ; Receptor, trkB - genetics ; Receptor, trkC - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Signal Transduction - genetics ; Statistics, Nonparametric ; Tumors ; Tumors in children ; Zebrafish
É parte de: Nature genetics, 2014-05, Vol.46 (5), p.444-450
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: United States: Nature Publishing Group
Idioma: Inglês

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The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

United States: Nature Publishing Group

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