Abstract
Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.
| Original language | English |
|---|---|
| Article number | 7207 |
| Journal | Nature Communications |
| Volume | 6 |
| DOIs | |
| Publication status | Published - 12 Jun 2015 |
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In: Nature Communications, Vol. 6, 7207, 12.06.2015.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - TCF12 is mutated in anaplastic oligodendroglioma
AU - Labreche, Karim
AU - Simeonova, Iva
AU - Kamoun, Aurélie
AU - Gleize, Vincent
AU - Chubb, Daniel
AU - Letouzé, Eric
AU - Riazalhosseini, Yasser
AU - Dobbins, Sara E.
AU - Elarouci, Nabila
AU - Ducray, Francois
AU - De Reyniès, Aurélien
AU - Zelenika, Diana
AU - Wardell, Christopher P.
AU - Frampton, Mathew
AU - Saulnier, Olivier
AU - Pastinen, Tomi
AU - Hallout, Sabrina
AU - Figarella-Branger, Dominique
AU - Dehais, Caroline
AU - Idbaih, Ahmed
AU - Mokhtari, Karima
AU - Delattre, Jean Yves
AU - Huillard, Emmanuelle
AU - Mark Lathrop, G.
AU - Sanson, Marc
AU - Houlston, Richard S.
AU - Adam, Clovis
AU - Andraud, Marie
AU - Aubriot-Lorton, Marie Hélène
AU - Bauchet, Luc
AU - Beauchesne, Patrick
AU - Blechet, Claire
AU - Campone, Mario
AU - Carpentier, Antoine
AU - Carpentier, Catherine
AU - Carpiuc, Ioana
AU - Chenard, Marie Pierre
AU - Chiforeanu, Danchristian
AU - Chinot, Olivier
AU - Cohen-Moyal, Elisabeth
AU - Colin, Philippe
AU - Dam-Hieu, Phong
AU - Desenclos, Christine
AU - Desse, Nicolas
AU - Dhermain, Frederic
AU - Diebold, Marie Danièle
AU - Eimer, Sandrine
AU - Faillot, Thierry
AU - Fesneau, Mélanie
AU - Fontaine, Denys
AU - Gaillard, Stéphane
AU - Gauchotte, Guillaume
AU - Gaultier, Claude
AU - Ghiringhelli, Francois
AU - Godard, Joel
AU - Gueye, Edouard Marcel
AU - Guillamo, Jean Sebastien
AU - Hamdi-Elouadhani, Selma
AU - Honnorat, Jerome
AU - Kemeny, Jean Louis
AU - Khallil, Toufik
AU - Jouvet, Anne
AU - Labrousse, Francois
AU - Langlois, Olivier
AU - Laquerriere, Annie
AU - Lechapt-Zalcman, Emmanuelle
AU - Le Guérinel, Caroline
AU - Levillain, Pierre Marie
AU - Loiseau, Hugues
AU - Loussouarn, Delphine
AU - Maurage, Claude Alain
AU - Menei, Philippe
AU - Motsuo Fotso, Marie Janette
AU - Noel, Georges
AU - Parker, Fabrice
AU - Peoc'H, Michel
AU - Polivka, Marc
AU - Quintin-Roué, Isabelle
AU - Ramirez, Carole
AU - Ricard, Damien
AU - Richard, Pomone
AU - Rigau, Valérie
AU - Rousseau, Audrey
AU - Runavot, Gwenaelle
AU - Sevestre, Henri
AU - Tortel, Marie Christine
AU - Uro-Coste, Emmanuelle
AU - Burel-Vandenbos, Fanny
AU - Vauleon, Elodie
AU - Viennet, Gabriel
AU - Villa, Chiara
AU - Wager, Michel
N1 - Publisher Copyright: © 2015 Macmillan Publishers Limited. All rights reserved.
PY - 2015/6/12
Y1 - 2015/6/12
N2 - Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.
AB - Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.
UR - http://www.scopus.com/inward/record.url?scp=84935896707&partnerID=8YFLogxK
U2 - 10.1038/ncomms8207
DO - 10.1038/ncomms8207
M3 - Article
C2 - 26068201
AN - SCOPUS:84935896707
SN - 2041-1723
VL - 6
JO - Nature Communications
JF - Nature Communications
M1 - 7207
ER -