Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.
3D tumoroids
Neuroblastoma
array CGH
clonal evolution
pharmacogenetics
recurrent tumor
single nucleotide variants
whole exome sequencing
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
09 10 2021
09 10 2021
Historique:
received:
12
09
2021
revised:
04
10
2021
accepted:
06
10
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
15
12
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34685674
pii: cells10102695
doi: 10.3390/cells10102695
pmc: PMC8534916
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondazione Cassa di Risparmio di Padova e Rovigo
ID : 20/11 FCR
Organisme : Fundación Científica Asociación Española Contra el Cáncer
ID : 2018/150
Organisme : ISCIII and ERDF
ID : PT17/0019
Organisme : ISCIII (FIS) and FEDER
ID : PI20/01107
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