ArticleFrontiers in oncology2023
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Article in Frontiers in oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 17 citations in OpenAlex.
- Genomic Medicine Sweden: Advancing precision medicine at the national level.Journal of internal medicine · 2026Review
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Pitfalls and Challenges in the Detection of ZNF384 Rearrangements by Fluorescence in Situ Hybridization.Genes, chromosomes & cancer · 2026Article
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- Genomic characterization of resistant and relapsed adult B-cell acute lymphoblastic leukemia.Journal of applied genetics · 2026Article
- From the bench of molecular understanding to the bedside of optimal therapy forEJC paediatric oncology · 2025Article
- Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia.Cancers · 2025Article
- Rapid Identification ofEJHaem · 2025Article
- Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia.NPJ precision oncology · 2025Review
- Review
- Challenging Conventional Diagnostic Methods by Comprehensive Molecular Diagnostics: A Nationwide Prospective Comparison in Children With ALL.JCO precision oncology · 2025Article
- Ikaros Deletions among Bulgarian Patients with Acute Lymphoblastic Leukemia/Lymphoma.Diagnostics (Basel, Switzerland) · 2024Article
- Benefits for children with suspected cancer from routine whole-genome sequencing.Nature medicine · 2024Article
- Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.NPJ precision oncology · 2023Article
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Authors and funding
20 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: The suitability of whole-genome sequencing (WGS) as the sole method to detect clinically relevant genomic aberrations in B-cell acute lymphoblastic leukemia (ALL) was investigated with the aim of replacing current diagnostic methods. Methods: For this purpose, we assessed the analytical performance of 150 bp paired-end WGS (90x leukemia/30x germline). A set of 88 retrospective B-cell ALL samples were selected to represent established ALL subgroups as well as ALL lacking stratifying markers by standard-of-care (SoC), so-called B-other ALL. Results: Both the analysis of paired leukemia/germline (L/N)(n=64) as well as leukemia-only (L-only)(n=88) detected all types of aberrations mandatory in the current ALLTogether trial protocol, i.e., aneuploidies, structural variants, and focal copy-number aberrations. Moreover, comparison to SoC revealed 100% concordance and that all patients had been assigned to the correct genetic subgroup using both approaches. Notably, WGS could allocate 35 out of 39 B-other ALL samples to one of the emerging genetic subgroups considered in the most recent classifications of ALL. We further investigated the impact of high (90x; n=58) vs low (30x; n=30) coverage on the diagnostic yield and observed an equally perfect concordance with SoC; low coverage detected all relevant lesions. Discussion: The filtration of the WGS findings with a short list of genes recurrently rearranged in ALL was instrumental to extract the clinically relevant information efficiently. Nonetheless, the detection of
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