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Targetable Genetic Alterations in High-Risk Neuroblastoma Patients Enrolled in the SIOPEN HR-NBL1 Study

2025-05-25Documento de conferência Acesso restrito
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dc.contributor.authorAnseri, Elnaz Saberi
dc.contributor.authorBellini, Angela
dc.contributor.authorPötschger, Ulrike
dc.contributor.authorTaschner-Mandl, Sabine
dc.contributor.authorPlanchon, Julien Masliah
dc.contributor.authorAttignon, Valéry
dc.contributor.authorAuger, Nathalie
dc.contributor.authorBeiske, Klaus
dc.contributor.authorGoodmann, Angharad
dc.contributor.authorJeison, Marta
dc.contributor.authorMazzocco, Katia
dc.contributor.authorMorini, Martina
dc.contributor.authorCapasso, Mario
dc.contributor.authorMühlethaler-Mottet, Annick
dc.contributor.authorNoguera, Rosa
dc.contributor.authorFont de Mora, Jaime
dc.contributor.authorMartinsson, Tommy
dc.contributor.authorVan Roy, Nadine
dc.contributor.authorVicha, Ales
dc.contributor.authorMarques, Barbara
dc.contributor.authorChesler, Louis
dc.contributor.authorGeorge, Sally
dc.contributor.authorTweddle, Deborah
dc.contributor.authorLadenstein, Ruth
dc.contributor.authorSchleiermacher, Gudrun
dc.date.accessioned2026-03-04T14:19:26Z
dc.date.available2026-03-04T14:19:26Z
dc.date.issued2025-05-25
dc.description.abstractBackground: 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.eng
dc.identifier.urihttp://hdl.handle.net/10400.18/11123
dc.language.isoeng
dc.peerreviewedyes
dc.rights.uriN/A
dc.subjectNeuroblastoma
dc.subjectSIOPEN HR-NBL1 Study
dc.subjectHigh-Risk
dc.subjectDoenças Genéticas
dc.titleTargetable Genetic Alterations in High-Risk Neuroblastoma Patients Enrolled in the SIOPEN HR-NBL1 Studyeng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-05
oaire.citation.conferencePlaceWashington DC , USA
oaire.citation.titleAdvances in Neuroblastoma Research Association (ANR) Meeting, 25-28 May 2025
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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