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Neuroblastoma risk assessment and treatment stratification with hybrid capture-based panel sequencing

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Item Type:Article
Title:Neuroblastoma risk assessment and treatment stratification with hybrid capture-based panel sequencing
Creators Name:Szymansky, A. and Kruetzfeldt, L.M. and Heukamp, L.C. and Hertwig, F. and Theissen, J. and Deubzer, H.E. and Willing, E.M. and Menon, R. and Fuchs, S. and Thole, T. and Schulte, S. and Schmelz, K. and Künkele, A. and Lang, P. and Fuchs, J. and Eggert, A. and Eckert, C. and Fischer, M. and Henssen, A.G. and Rodriguez-Fos, E. and Schulte, J.H.
Abstract:For many years, the risk-based therapy stratification of children with neuroblastoma has relied on clinical and molecular covariates. In recent years, genome analysis has revealed further alterations defining risk, tumor biology, and therapeutic targets. The implementation of a robust and scalable method for analyzing traditional and new molecular markers in routine diagnostics is an urgent clinical need. Here, we investigated targeted panel sequencing as a diagnostic approach to analyze all relevant genomic neuroblastoma risk markers in one assay. Our "neuroblastoma hybrid capture sequencing panel" (NB-HCSP) assay employs a technology for the high-coverage sequencing (>1000×) of 55 selected genes and neuroblastoma-relevant genomic regions, which allows for the detection of single nucleotide changes, structural rearrangements, and copy number alterations. We validated our assay by analyzing 15 neuroblastoma cell lines and a cohort of 20 neuroblastomas, for which reference routine diagnostic data and genome sequencing data were available. We observed a high concordance for risk markers identified by the NB-HSCP assay, clinical routine diagnostics, and genome sequencing. Subsequently, we demonstrated clinical applicability of the NB-HCSP assay by analyzing routine clinical samples. We conclude that the NB-HCSP assay may be implemented into routine diagnostics as a single assay that covers all essential covariates for initial neuroblastoma classification, extended risk stratification, and targeted therapy selection.
Keywords:ALK, Hybrid Capture Panel Sequencing, MYCN, NB-HCPS Assay, Neuroblastoma, Risk Stratification, Targeted Therapies
Source:Journal of Personalized Medicine
Page Range:691
Date:August 2021
Official Publication:https://doi.org/10.3390/jpm11080691
PubMed:View item in PubMed

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