Article
The molecular landscape of ETMR at diagnosis and relapse.
Nature - 1 Dec 2019
Lambo Sander, Gröbner Susanne N, Rausch Tobias, Waszak Sebastian M, Schmidt Christin, Gorthi Aparna, Romero July Carolina, Mauermann Monika, Brabetz Sebastian, Krausert Sonja, Buchhalter Ivo, Koster Jan, Zwijnenburg Danny A, Sill Martin, Hübner Jens-Martin, Mack Norman, Schwalm Benjamin, Ryzhova Marina, Hovestadt Volker, Papillon-Cavanagh Simon, Chan Jennifer A, Landgraf Pablo, Ho Ben, Milde Till, Witt Olaf, Ecker Jonas, Sahm Felix, Sumerauer David, Ellison David W, Orr Brent A, Darabi Anna, Haberler Christine, Figarella-Branger Dominique, Wesseling Pieter, Schittenhelm Jens, Remke Marc, Taylor Michael D, Gil-da-Costa Maria J, Łastowska Maria, Grajkowska Wiesława, Hasselblatt Martin, Hauser Peter, Pietsch Torsten, Uro-Coste Emmanuelle, Bourdeaut Franck, Masliah-Planchon Julien, Rigau Valérie, Alexandrescu Sanda, Wolf Stephan, Li Xiao-Nan, Schüller Ulrich, Snuderl Matija, Karajannis Matthias A, Giangaspero Felice, Jabado Nada, von Deimling Andreas, Jones David T W, Korbel Jan O, von Hoff Katja, Lichter Peter, Huang Annie, Bishop Alexander J R, Pfister Stefan M, Korshunov Andrey, Kool Marcel
Abstract excerpt
Embryonal tumours with multilayered rosettes (ETMRs) are aggressive paediatric embryonal brain tumours with a universally poor prognosis1. Here we collected 193 primary ETMRs and 23 matched relapse samples to investigate the genomic landscape of this distinct tumour type. We found that patients with tumours in which the proposed driver C19MC2-4 was not amplified frequently had germline mutations in DICER1 or...
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