biostudies-literatureCorallo DISCIII and ERDFFondazione Cassa di Risparmio di Padova e RovigoFundación Científica Asociación Española Contra el CáncerISCIII (FIS) and FEDER2695https://www.ebi.ac.uk/biostudies/studies/S-EPMC8534916biostudies-literatureUnknown10(10)Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining CNAs, SNVs, and SNPs analyses to assess clonal evolution during the disease progression by evidencing CellsIntegrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.PMC8534916PI20/01107PT17/00192018/15020/11 FCRTrevisson ECorallo DPinato CZin AMonferrer EAveic SAlino SFZanon CPantile MBiffi ATonini GPViscardi EFrancescato SRossi BNoguera RHerrero MJfalseIntegrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining CNAs, SNVs, and SNPs analyses to assess clonal evolution during the disease progression by evidencing 2021-01-01T00:00:00Z2021 Oct2026-04-08T09:06:30.401Z2024-11-07T01:13:15.002ZS-EPMC85349163468567410.3390/cells10102695