Article
Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.
Cancer cell - 9 Feb 2015
Wegert Jenny, Ishaque Naveed, Vardapour Romina, Geörg Christina, Gu Zuguang, Bieg Matthias, Ziegler Barbara, Bausenwein Sabrina, Nourkami Nasenien, Ludwig Nicole, Keller Andreas, Grimm Clemens, Kneitz Susanne, Williams Richard D, Chagtai Tas, Pritchard-Jones Kathy, van Sluis Peter, Volckmann Richard, Koster Jan, Versteeg Rogier, Acha Tomas, O'Sullivan Maureen J, Bode Peter K, Niggli Felix, Tytgat Godelieve A, van Tinteren Harm, van den Heuvel-Eibrink Marry M, Meese Eckart, Vokuhl Christian, Leuschner Ivo, Graf Norbert, Eils Roland, Pfister Stefan M, Kool Marcel, Gessler Manfred
Abstract excerpt
Blastemal histology in chemotherapy-treated pediatric Wilms tumors (nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find therapeutic leads for this subgroup, we analyzed 58 blastemal type Wilms tumors by exome and transcriptome sequencing and validated our findings in a large replication cohort. Recurrent mutations included a hotspot mutation (Q177R) in the...
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