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Skowron, Patryk; Farooq, Hamza; Cavalli, Florence M. G.; Morrissy, A. Sorana; Ly, Michelle; Hendrikse, Liam D.; Wang, Evan Y.; Djambazian, Haig; Zhu, Helen; Mungall, Karen L.; Trinh, Quang M.; Zheng, Tina; Dai, Shizhong; Stucklin, Ana S. Guerreiro; Vladoiu, Maria C.; Fong, Vernon; Holgado, Borja L.; Nor, Carolina; Wu, Xiaochong; Abd-Rabbo, Diala; Bérubé, Pierre; Wang, Yu Chang; Luu, Betty; Suarez, Raul A.; [...]

The transcriptional landscape of Shh medulloblastoma

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  • Medientyp: E-Artikel
  • Titel: The transcriptional landscape of Shh medulloblastoma
  • Beteiligte: Skowron, Patryk; Farooq, Hamza; Cavalli, Florence M. G.; Morrissy, A. Sorana; Ly, Michelle; Hendrikse, Liam D.; Wang, Evan Y.; Djambazian, Haig; Zhu, Helen; Mungall, Karen L.; Trinh, Quang M.; Zheng, Tina; Dai, Shizhong; Stucklin, Ana S. Guerreiro; Vladoiu, Maria C.; Fong, Vernon; Holgado, Borja L.; Nor, Carolina; Wu, Xiaochong; Abd-Rabbo, Diala; Bérubé, Pierre; Wang, Yu Chang; Luu, Betty; Suarez, Raul A.; [...]
  • Erschienen: Springer Science and Business Media LLC, 2021
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-021-21883-0
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of non-coding RNA transcripts. We identify alterations within the cAMP dependent pathway (<jats:italic>GNAS</jats:italic>, <jats:italic>PRKAR1A</jats:italic>) which converge on <jats:italic>GLI2</jats:italic> activity and show that 18% of tumors have a genetic event that directly targets the abundance and/or stability of MYCN. Furthermore, we discover an extensive network of fusions in focally amplified regions encompassing <jats:italic>GLI2</jats:italic>, and several loss-of-function fusions in tumor suppressor genes <jats:italic>PTCH1</jats:italic>, <jats:italic>SUFU</jats:italic> and <jats:italic>NCOR1</jats:italic>. Molecular convergence on a subset of genes by nucleotide variants, copy number aberrations, and gene fusions highlight the key roles of specific pathways in the pathogenesis of Sonic hedgehog medulloblastoma and open up opportunities for therapeutic intervention.</jats:p>
  • Zugangsstatus: Freier Zugang