SKOWRON, P., H. FAROOQ, F. M. G. CAVALLI, A. S. MORRISSY, M. LY, L. D. HENDRIKSE, E. Y. WANG, H. DJAMBAZIAN, H. ZHU, K. L. MUNGALL, Q. M. TRINH, T. N. ZHENG, S. Z. DAI, A. S. G. STUCKLIN, M. C. VLADOIU, V. FONG, B. L. HOLGADO, C. NOR, X. C. WU, D. ABD-RABBO, P. BERUBE, Y. C. WANG, B. LUU, R. A. SUAREZ, A. RASTAN, A. H. GILLMOR, J. J. Y. LEE, X. Y. ZHANG, C. DANIELS, P. DIRKS, D. MALKIN, E. BOUFFET, U. TABORI, J. LOUKIDES, F. P. DOZ, F. BOURDEAUT, O. O. DELATTRE, J. MASLIAH-PLANCHON, O. AYRAULT, S. K. KIM, D. MEYRONET, W. A. GRAJKOWSKA, C. G. CARLOTTI, C. DE TORRES, J. MORA, C. G. EBERHART, E. G. VAN MEIR, T. KUMABE, P. J. FRENCH, J. M. KROS, N. JABADO, B. LACH, I. F. POLLACK, R. L. HAMILTON, A. A. N. RAO, C. GIANNINI, J. M. OLSON, L. BOGNAR, A. KLEKNER, Karel ZITTERBART, J. J. PHILLIPS, R. C. THOMPSON, M. K. COOPER, J. B. RUBIN, L. M. LIAU, M. GARAMI, P. HAUSER, K. K. W. LI, H. K. NG, W. S. POON, G. Y. GILLESPIE, J. A. CHAN, S. JUNG, R. E. MCLENDON, E. M. THOMPSON, D. ZAGZAG, R. VIBHAKAR, Y. S. RA, M. L. GARRE, U. SCHULLER, T. SHOFUDA, C. C. FARIA, E. LOPEZ-AGUILAR, G. ZADEH, C. C. HUI, V. RAMASWAMY, S. D. BAILEY, S. J. JONES, A. J. MUNGALL, R. A. MOORE, J. A. CALARCO, L. D. STEIN, G. D. BADER, J. REIMAND, J. RAGOUSSIS, W. A. WEISS, M. A. MARRA, H. SUZUKI and MD TAYLOR. The transcriptional landscape of Shh medulloblastoma. Nature Communications. London: Nature Publishing Group, 2021, vol. 12, No 1, p. 1-17. ISSN 2041-1723. Available from: https://dx.doi.org/10.1038/s41467-021-21883-0.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name The transcriptional landscape of Shh medulloblastoma
Authors SKOWRON, P., H. FAROOQ, F. M. G. CAVALLI, A. S. MORRISSY, M. LY, L. D. HENDRIKSE, E. Y. WANG, H. DJAMBAZIAN, H. ZHU, K. L. MUNGALL, Q. M. TRINH, T. N. ZHENG, S. Z. DAI, A. S. G. STUCKLIN, M. C. VLADOIU, V. FONG, B. L. HOLGADO, C. NOR, X. C. WU, D. ABD-RABBO, P. BERUBE, Y. C. WANG, B. LUU, R. A. SUAREZ, A. RASTAN, A. H. GILLMOR, J. J. Y. LEE, X. Y. ZHANG, C. DANIELS, P. DIRKS, D. MALKIN, E. BOUFFET, U. TABORI, J. LOUKIDES, F. P. DOZ, F. BOURDEAUT, O. O. DELATTRE, J. MASLIAH-PLANCHON, O. AYRAULT, S. K. KIM, D. MEYRONET, W. A. GRAJKOWSKA, C. G. CARLOTTI, C. DE TORRES, J. MORA, C. G. EBERHART, E. G. VAN MEIR, T. KUMABE, P. J. FRENCH, J. M. KROS, N. JABADO, B. LACH, I. F. POLLACK, R. L. HAMILTON, A. A. N. RAO, C. GIANNINI, J. M. OLSON, L. BOGNAR, A. KLEKNER, Karel ZITTERBART (203 Czech Republic, belonging to the institution), J. J. PHILLIPS, R. C. THOMPSON, M. K. COOPER, J. B. RUBIN, L. M. LIAU, M. GARAMI, P. HAUSER, K. K. W. LI, H. K. NG, W. S. POON, G. Y. GILLESPIE, J. A. CHAN, S. JUNG, R. E. MCLENDON, E. M. THOMPSON, D. ZAGZAG, R. VIBHAKAR, Y. S. RA, M. L. GARRE, U. SCHULLER, T. SHOFUDA, C. C. FARIA, E. LOPEZ-AGUILAR, G. ZADEH, C. C. HUI, V. RAMASWAMY, S. D. BAILEY, S. J. JONES, A. J. MUNGALL, R. A. MOORE, J. A. CALARCO, L. D. STEIN, G. D. BADER, J. REIMAND, J. RAGOUSSIS, W. A. WEISS, M. A. MARRA, H. SUZUKI (guarantor) and MD TAYLOR.
Edition Nature Communications, London, Nature Publishing Group, 2021, 2041-1723.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10700 1.7 Other natural sciences
Country of publisher Germany
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 17.694
RIV identification code RIV/00216224:14110/21:00122127
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1038/s41467-021-21883-0
UT WoS 000631928500006
Keywords in English Shh medulloblastoma; transcriptional landscape
Tags 14110321, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 19/8/2021 11:50.
Abstract
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 (GNAS, PRKAR1A) which converge on GLI2 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 GLI2, and several loss-of-function fusions in tumor suppressor genes PTCH1, SUFU and NCOR1. 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. Sonic Hedgehog medulloblastoma (Shh-MB) comprises four subtypes each with distinct clinical traits. Here the authors characterize the genome, transcriptome, and methylome of Shh-MB subtypes, revealing a complex fusion landscape and the molecular convergence of MYCN and cAMP signaling pathways.
PrintDisplayed: 1/8/2024 04:13