Szymansky, Annabell, Kruetzfeldt, Louisa-Marie ORCID: 0000-0003-3630-3727, Heukamp, Lukas C., Hertwig, Falk, Theissen, Jessica, Deubzer, Hedwig E., Willing, Eva-Maria, Menon, Roopika, Fuchs, Steffen ORCID: 0000-0001-9619-4329, Thole, Theresa, Schulte, Stefanie, Schmelz, Karin, Kuenkele, Annette, Lang, Peter, Fuchs, Joerg, Eggert, Angelika ORCID: 0000-0003-3476-8184, Eckert, Cornelia, Fischer, Matthias, Henssen, Anton G., Rodriguez-Fos, Elias ORCID: 0000-0002-2555-0178 and Schulte, Johannes H. (2021). Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing. J. Pers. Med., 11 (8). BASEL: MDPI. ISSN 2075-4426

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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 (>1000x) 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Szymansky, AnnabellUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kruetzfeldt, Louisa-MarieUNSPECIFIEDorcid.org/0000-0003-3630-3727UNSPECIFIED
Heukamp, Lukas C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hertwig, FalkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Theissen, JessicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deubzer, Hedwig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Willing, Eva-MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Menon, RoopikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuchs, SteffenUNSPECIFIEDorcid.org/0000-0001-9619-4329UNSPECIFIED
Thole, TheresaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schulte, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmelz, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuenkele, AnnetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lang, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuchs, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eggert, AngelikaUNSPECIFIEDorcid.org/0000-0003-3476-8184UNSPECIFIED
Eckert, CorneliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fischer, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henssen, Anton G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez-Fos, EliasUNSPECIFIEDorcid.org/0000-0002-2555-0178UNSPECIFIED
Schulte, Johannes H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-599485
DOI: 10.3390/jpm11080691
Journal or Publication Title: J. Pers. Med.
Volume: 11
Number: 8
Date: 2021
Publisher: MDPI
Place of Publication: BASEL
ISSN: 2075-4426
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ACTIVATING MUTATIONS; ALK MUTATIONS; CANCER; RECEPTOR; CLASSIFICATION; REARRANGEMENTS; VALIDATION; DIAGNOSIS; FREQUENT; REVEALSMultiple languages
Health Care Sciences & Services; Medicine, General & InternalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/59948

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