Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study
| Autor: | Eva Trevisson, Claudia Pinato, Samuela Francescato, Sanja Aveic, María José Herrero, Rosa Noguera, Alessandra Biffi, Salvador F. Aliño, Carlo Zanon, Gian Paolo Tonini, Elisabetta Viscardi, Ezequiel Monferrer, Bartolomeo Rossi, Angelica Zin, Diana Corallo, Marcella Pantile |
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| Rok vydání: | 2021 |
| Předmět: |
3D tumoroids
Array CGH Clonal evolution Neuroblastoma Pharmacogenetics Recurrent tumor Single nucleotide variants Whole exome sequencing Child Preschool Disease Progression Drug Resistance Neoplasm Fatal Outcome Humans Immunophenotyping Polymorphism Single Nucleotide Comparative Genomic Hybridization Whole Exome Sequencing QH301-705.5 Drug Resistance clonal evolution Case Report Single-nucleotide polymorphism Disease Computational biology Biology Malignancy Somatic evolution in cancer whole exome sequencing Exome Sequencing medicine array CGH recurrent tumor Polymorphism Biology (General) Child Preschool Exome sequencing Tumors Single Nucleotide General Medicine medicine.disease Farmacogenètica Neoplasm Comparative genomic hybridization |
| Zdroj: | 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 RODERIC. Repositorio Institucional de la Universitat de Valéncia instname Cells, Vol 10, Iss 2695, p 2695 (2021) Cells |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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