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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

dc.contributor.author	Corallo, Diana
dc.contributor.author	Zanon, Carlo
dc.contributor.author	Pantile, Marcela
dc.contributor.author	Tonini, Gian Paolo
dc.contributor.author	Zin, Angelica
dc.contributor.author	Francescato, Samuela
dc.contributor.author	Rossi, Bartolomeo
dc.contributor.author	Trevisson, Eva
dc.contributor.author	Pinato, Claudia
dc.contributor.author	Monferrer, Ezequiel
dc.contributor.author	Noguera Salvá, Rosa
dc.contributor.author	Aliño Pellicer, Salvador F.
dc.contributor.author	Herrero Cervera, María José
dc.contributor.author	Biffi, Alessandra
dc.contributor.author	Viscardi, Elisabetta
dc.contributor.author	Aveic, Sanja
dc.date.accessioned	2022-05-18T17:29:13Z
dc.date.available	2022-05-18T17:29:13Z
dc.date.issued	2021
dc.identifier.citation	Corallo, Diana Zanon, Carlo Pantile, Marcela Tonini, Gian Paolo Zin, Angelica Francescato, Samuela Rossi, Bartolomeo Trevisson, Eva Pinato, Claudia Monferrer, Ezequiel Noguera Salvá, Rosa Aliño Pellicer, Salvador F. Herrero Cervera, María José Biffi, Alessandra Viscardi, Elisabetta Aveic, Sanja 2021 Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study Cells 10 10 2695
dc.identifier.uri	https://hdl.handle.net/10550/82849
dc.description.abstract	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 multiple clones at disease onset and dynamic genomic alterations during therapy administration. The proposed molecular and cytogenetic integrated analysis empowers the disease follow-up and the prediction of tumor recurrence.
dc.language.iso	eng
dc.relation.ispartof	Cells, 2021, vol. 10, num. 10, p. 2695
dc.subject	Neuroblastoma
dc.subject	Tumors
dc.subject	Farmacogenètica
dc.title	Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study
dc.type	journal article	es_ES
dc.date.updated	2022-05-18T17:29:13Z
dc.identifier.doi	10.3390/cells10102695
dc.identifier.idgrec	149704
dc.rights.accessRights	open access	es_ES