The transcriptional landscape of Shh medulloblastoma

Detalhes bibliográficos
Autor(a) principal: Skowron, Patryk
Data de Publicação: 2021
Outros Autores: 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., Rastan, Avesta, Gillmor, Aaron H., Lee, John J. Y., Zhang, Xiao Yun, Daniels, Craig, Dirks, Peter, Malkin, David, Bouffet, Eric, Tabori, Uri, Loukides, James, Doz, François P., Bourdeaut, Franck, Delattre, Olivier O., Masliah-Planchon, Julien, Ayrault, Olivier, Kim, Seung-Ki, Meyronet, David, Grajkowska, Wieslawa A., Carlotti, Carlos G., de Torres, Carmen, Mora, Jaume, Eberhart, Charles G., Van Meir, Erwin G., Kumabe, Toshihiro, French, Pim J., Kros, Johan M., Jabado, Nada, Lach, Boleslaw, Pollack, Ian F., Hamilton, Ronald L., Rao, Amulya A. Nageswara, Giannini, Caterina, Olson, James M., Bognár, László, Klekner, Almos, Zitterbart, Karel, Phillips, Joanna J., Thompson, Reid C., Cooper, Michael K., Rubin, Joshua B., Liau, Linda M., Garami, Miklós, Hauser, Peter, Li, Kay Ka Wai, Ng, Ho-Keung, Poon, Wai Sang, Yancey Gillespie, G., Chan, Jennifer A., Jung, Shin, McLendon, Roger E., Thompson, Eric M., Zagzag, David, Vibhakar, Rajeev, Ra, Young Shin, Garre, Maria Luisa, Schüller, Ulrich, Shofuda, Tomoko, Faria, Claudia, López-Aguilar, Enrique, Zadeh, Gelareh, Hui, Chi-Chung, Ramaswamy, Vijay, Bailey, Swneke D., Jones, Steven J., Mungall, Andrew J., Moore, Richard A., Calarco, John A., Stein, Lincoln D., Bader, Gary D., Reimand, Jüri, Ragoussis, Jiannis, Weiss, William A., Marra, Marco A., Suzuki, Hiromichi, Taylor, Michael D.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/47140
Resumo: © The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
id RCAP_316923cebfe3297a1a5b3164a3eccdfe
oai_identifier_str oai:repositorio.ul.pt:10451/47140
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling The transcriptional landscape of Shh medulloblastoma© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.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.Springer NatureRepositório da Universidade de LisboaSkowron, PatrykFarooq, HamzaCavalli, Florence M. G.Morrissy, A. SoranaLy, MichelleHendrikse, Liam D.Wang, Evan Y.Djambazian, HaigZhu, HelenMungall, Karen L.Trinh, Quang M.Zheng, TinaDai, ShizhongStucklin, Ana S. GuerreiroVladoiu, Maria C.Fong, VernonHolgado, Borja L.Nor, CarolinaWu, XiaochongAbd-Rabbo, DialaBérubé, PierreWang, Yu ChangLuu, BettySuarez, Raul A.Rastan, AvestaGillmor, Aaron H.Lee, John J. Y.Zhang, Xiao YunDaniels, CraigDirks, PeterMalkin, DavidBouffet, EricTabori, UriLoukides, JamesDoz, François P.Bourdeaut, FranckDelattre, Olivier O.Masliah-Planchon, JulienAyrault, OlivierKim, Seung-KiMeyronet, DavidGrajkowska, Wieslawa A.Carlotti, Carlos G.de Torres, CarmenMora, JaumeEberhart, Charles G.Van Meir, Erwin G.Kumabe, ToshihiroFrench, Pim J.Kros, Johan M.Jabado, NadaLach, BoleslawPollack, Ian F.Hamilton, Ronald L.Rao, Amulya A. NageswaraGiannini, CaterinaOlson, James M.Bognár, LászlóKlekner, AlmosZitterbart, KarelPhillips, Joanna J.Thompson, Reid C.Cooper, Michael K.Rubin, Joshua B.Liau, Linda M.Garami, MiklósHauser, PeterLi, Kay Ka WaiNg, Ho-KeungPoon, Wai SangYancey Gillespie, G.Chan, Jennifer A.Jung, ShinMcLendon, Roger E.Thompson, Eric M.Zagzag, DavidVibhakar, RajeevRa, Young ShinGarre, Maria LuisaSchüller, UlrichShofuda, TomokoFaria, ClaudiaLópez-Aguilar, EnriqueZadeh, GelarehHui, Chi-ChungRamaswamy, VijayBailey, Swneke D.Jones, Steven J.Mungall, Andrew J.Moore, Richard A.Calarco, John A.Stein, Lincoln D.Bader, Gary D.Reimand, JüriRagoussis, JiannisWeiss, William A.Marra, Marco A.Suzuki, HiromichiTaylor, Michael D.2021-03-29T16:30:02Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/47140engNat Commun. 2021 Mar 19;12(1):174910.1038/s41467-021-21883-02041-1723info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T16:49:48Zoai:repositorio.ul.pt:10451/47140Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:59:13.026236Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv The transcriptional landscape of Shh medulloblastoma
title The transcriptional landscape of Shh medulloblastoma
spellingShingle The transcriptional landscape of Shh medulloblastoma
Skowron, Patryk
title_short The transcriptional landscape of Shh medulloblastoma
title_full The transcriptional landscape of Shh medulloblastoma
title_fullStr The transcriptional landscape of Shh medulloblastoma
title_full_unstemmed The transcriptional landscape of Shh medulloblastoma
title_sort The transcriptional landscape of Shh medulloblastoma
author Skowron, Patryk
author_facet 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.
Rastan, Avesta
Gillmor, Aaron H.
Lee, John J. Y.
Zhang, Xiao Yun
Daniels, Craig
Dirks, Peter
Malkin, David
Bouffet, Eric
Tabori, Uri
Loukides, James
Doz, François P.
Bourdeaut, Franck
Delattre, Olivier O.
Masliah-Planchon, Julien
Ayrault, Olivier
Kim, Seung-Ki
Meyronet, David
Grajkowska, Wieslawa A.
Carlotti, Carlos G.
de Torres, Carmen
Mora, Jaume
Eberhart, Charles G.
Van Meir, Erwin G.
Kumabe, Toshihiro
French, Pim J.
Kros, Johan M.
Jabado, Nada
Lach, Boleslaw
Pollack, Ian F.
Hamilton, Ronald L.
Rao, Amulya A. Nageswara
Giannini, Caterina
Olson, James M.
Bognár, László
Klekner, Almos
Zitterbart, Karel
Phillips, Joanna J.
Thompson, Reid C.
Cooper, Michael K.
Rubin, Joshua B.
Liau, Linda M.
Garami, Miklós
Hauser, Peter
Li, Kay Ka Wai
Ng, Ho-Keung
Poon, Wai Sang
Yancey Gillespie, G.
Chan, Jennifer A.
Jung, Shin
McLendon, Roger E.
Thompson, Eric M.
Zagzag, David
Vibhakar, Rajeev
Ra, Young Shin
Garre, Maria Luisa
Schüller, Ulrich
Shofuda, Tomoko
Faria, Claudia
López-Aguilar, Enrique
Zadeh, Gelareh
Hui, Chi-Chung
Ramaswamy, Vijay
Bailey, Swneke D.
Jones, Steven J.
Mungall, Andrew J.
Moore, Richard A.
Calarco, John A.
Stein, Lincoln D.
Bader, Gary D.
Reimand, Jüri
Ragoussis, Jiannis
Weiss, William A.
Marra, Marco A.
Suzuki, Hiromichi
Taylor, Michael D.
author_role author
author2 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.
Rastan, Avesta
Gillmor, Aaron H.
Lee, John J. Y.
Zhang, Xiao Yun
Daniels, Craig
Dirks, Peter
Malkin, David
Bouffet, Eric
Tabori, Uri
Loukides, James
Doz, François P.
Bourdeaut, Franck
Delattre, Olivier O.
Masliah-Planchon, Julien
Ayrault, Olivier
Kim, Seung-Ki
Meyronet, David
Grajkowska, Wieslawa A.
Carlotti, Carlos G.
de Torres, Carmen
Mora, Jaume
Eberhart, Charles G.
Van Meir, Erwin G.
Kumabe, Toshihiro
French, Pim J.
Kros, Johan M.
Jabado, Nada
Lach, Boleslaw
Pollack, Ian F.
Hamilton, Ronald L.
Rao, Amulya A. Nageswara
Giannini, Caterina
Olson, James M.
Bognár, László
Klekner, Almos
Zitterbart, Karel
Phillips, Joanna J.
Thompson, Reid C.
Cooper, Michael K.
Rubin, Joshua B.
Liau, Linda M.
Garami, Miklós
Hauser, Peter
Li, Kay Ka Wai
Ng, Ho-Keung
Poon, Wai Sang
Yancey Gillespie, G.
Chan, Jennifer A.
Jung, Shin
McLendon, Roger E.
Thompson, Eric M.
Zagzag, David
Vibhakar, Rajeev
Ra, Young Shin
Garre, Maria Luisa
Schüller, Ulrich
Shofuda, Tomoko
Faria, Claudia
López-Aguilar, Enrique
Zadeh, Gelareh
Hui, Chi-Chung
Ramaswamy, Vijay
Bailey, Swneke D.
Jones, Steven J.
Mungall, Andrew J.
Moore, Richard A.
Calarco, John A.
Stein, Lincoln D.
Bader, Gary D.
Reimand, Jüri
Ragoussis, Jiannis
Weiss, William A.
Marra, Marco A.
Suzuki, Hiromichi
Taylor, Michael D.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv 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.
Rastan, Avesta
Gillmor, Aaron H.
Lee, John J. Y.
Zhang, Xiao Yun
Daniels, Craig
Dirks, Peter
Malkin, David
Bouffet, Eric
Tabori, Uri
Loukides, James
Doz, François P.
Bourdeaut, Franck
Delattre, Olivier O.
Masliah-Planchon, Julien
Ayrault, Olivier
Kim, Seung-Ki
Meyronet, David
Grajkowska, Wieslawa A.
Carlotti, Carlos G.
de Torres, Carmen
Mora, Jaume
Eberhart, Charles G.
Van Meir, Erwin G.
Kumabe, Toshihiro
French, Pim J.
Kros, Johan M.
Jabado, Nada
Lach, Boleslaw
Pollack, Ian F.
Hamilton, Ronald L.
Rao, Amulya A. Nageswara
Giannini, Caterina
Olson, James M.
Bognár, László
Klekner, Almos
Zitterbart, Karel
Phillips, Joanna J.
Thompson, Reid C.
Cooper, Michael K.
Rubin, Joshua B.
Liau, Linda M.
Garami, Miklós
Hauser, Peter
Li, Kay Ka Wai
Ng, Ho-Keung
Poon, Wai Sang
Yancey Gillespie, G.
Chan, Jennifer A.
Jung, Shin
McLendon, Roger E.
Thompson, Eric M.
Zagzag, David
Vibhakar, Rajeev
Ra, Young Shin
Garre, Maria Luisa
Schüller, Ulrich
Shofuda, Tomoko
Faria, Claudia
López-Aguilar, Enrique
Zadeh, Gelareh
Hui, Chi-Chung
Ramaswamy, Vijay
Bailey, Swneke D.
Jones, Steven J.
Mungall, Andrew J.
Moore, Richard A.
Calarco, John A.
Stein, Lincoln D.
Bader, Gary D.
Reimand, Jüri
Ragoussis, Jiannis
Weiss, William A.
Marra, Marco A.
Suzuki, Hiromichi
Taylor, Michael D.
description © The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
publishDate 2021
dc.date.none.fl_str_mv 2021-03-29T16:30:02Z
2021
2021-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/47140
url http://hdl.handle.net/10451/47140
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Nat Commun. 2021 Mar 19;12(1):1749
10.1038/s41467-021-21883-0
2041-1723
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799134538203398144