Percorrer por autor "Planchon, Julien Masliah"
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- Targetable Genetic Alterations in High-Risk Neuroblastoma Patients Enrolled in the SIOPEN HR-NBL1 StudyPublication . Anseri, Elnaz Saberi; Bellini, Angela; Pötschger, Ulrike; Taschner-Mandl, Sabine; Planchon, Julien Masliah; Attignon, Valéry; Auger, Nathalie; Beiske, Klaus; Goodmann, Angharad; Jeison, Marta; Mazzocco, Katia; Morini, Martina; Capasso, Mario; Mühlethaler-Mottet, Annick; Noguera, Rosa; Font de Mora, Jaime; Martinsson, Tommy; Van Roy, Nadine; Vicha, Ales; Marques, Barbara; Chesler, Louis; George, Sally; Tweddle, Deborah; Ladenstein, Ruth; Schleiermacher, GudrunBackground: In high-risk neuroblastoma (HR-NB), new treatment strategies, including targeted treatments, are required to improve outcomes. Aim: To determine the frequency of genetic alterations (SNVs/Indels) in genes considered to be targetable and/or to play a role in oncogenesis in HR-NB. Methods: Diagnostic tumor samples from 709 patients treated in the SIOPEN HR-NBL1 trial (INRG stage M: 636 patients; localized: 70 patients; Ms: 3 patients; 269 MYCN amplified) were analyzed. Targeted Sequencing (TrueSeq Custom Amplicon) of 85 genes involved in oncogenesis and therapy response was performed on (n=484 samples), along with other targeted sequencing approaches (n=377 samples), whole-exome sequencing (n=32 samples), and whole-genome sequencing (n=8 samples) across ten European centers. Final results were reported on the panel of 85 genes. Variant calling and copy number alterations were analyzed using Mutect2 and FACETS. Matched germline data were available for 54 patients.