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Integrated 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 hybridiza...
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| Published in: | Cells (Basel, Switzerland) Switzerland), 2021-10, Vol.10 (10), p.2695 |
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| creator | Corallo, Diana Zanon, Carlo Pantile, Marcella Tonini, Gian Paolo Zin, Angelica Francescato, Samuela Rossi, Bartolomeo Trevisson, Eva Pinato, Claudia Monferrer, Ezequiel Noguera, Rosa Aliño, Salvador F Herrero, Maria Jose Biffi, Alessandra Viscardi, Elisabetta Aveic, Sanja |
| description | 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. |
| doi_str_mv | 10.3390/cells10102695 |
| format | article |
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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.</description><identifier>ISSN: 2073-4409</identifier><identifier>EISSN: 2073-4409</identifier><identifier>DOI: 10.3390/cells10102695</identifier><identifier>PMID: 34685674</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>3D tumoroids ; array CGH ; Case Report ; Case studies ; Child, Preschool ; Chromosomes ; clonal evolution ; Comparative Genomic Hybridization ; Copy number ; Cytogenetics ; Disease Progression ; Drug Resistance, Neoplasm - genetics ; Evolution ; Exome Sequencing ; Fatal Outcome ; Genes ; Genomes ; Genomics ; Humans ; Hybridization ; Immunophenotyping ; Malignancy ; Medical prognosis ; Mutation ; Neuroblastoma ; Neuroblastoma - genetics ; Patients ; Pharmacogenetics ; Polymorphism, Single Nucleotide - genetics ; recurrent tumor ; Single-nucleotide polymorphism ; Software ; Tumors ; whole exome sequencing</subject><ispartof>Cells (Basel, Switzerland), 2021-10, Vol.10 (10), p.2695</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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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.</description><subject>3D tumoroids</subject><subject>array CGH</subject><subject>Case Report</subject><subject>Case studies</subject><subject>Child, Preschool</subject><subject>Chromosomes</subject><subject>clonal evolution</subject><subject>Comparative Genomic Hybridization</subject><subject>Copy number</subject><subject>Cytogenetics</subject><subject>Disease Progression</subject><subject>Drug Resistance, Neoplasm - genetics</subject><subject>Evolution</subject><subject>Exome Sequencing</subject><subject>Fatal Outcome</subject><subject>Genes</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Humans</subject><subject>Hybridization</subject><subject>Immunophenotyping</subject><subject>Malignancy</subject><subject>Medical prognosis</subject><subject>Mutation</subject><subject>Neuroblastoma</subject><subject>Neuroblastoma - genetics</subject><subject>Patients</subject><subject>Pharmacogenetics</subject><subject>Polymorphism, Single Nucleotide - 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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. 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| subjects | 3D tumoroids array CGH Case Report Case studies Child, Preschool Chromosomes clonal evolution Comparative Genomic Hybridization Copy number Cytogenetics Disease Progression Drug Resistance, Neoplasm - genetics Evolution Exome Sequencing Fatal Outcome Genes Genomes Genomics Humans Hybridization Immunophenotyping Malignancy Medical prognosis Mutation Neuroblastoma Neuroblastoma - genetics Patients Pharmacogenetics Polymorphism, Single Nucleotide - genetics recurrent tumor Single-nucleotide polymorphism Software Tumors whole exome sequencing |
| title | Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study |
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