ArticleAmerican journal of hematology2022
Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
Article in American journal of hematology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers.
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41 citing papers in PubMed, 69 citations in OpenAlex.
- Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.The Journal of pathology · 2026Article
- Pitfalls and Challenges in the Detection of ZNF384 Rearrangements by Fluorescence in Situ Hybridization.Genes, chromosomes & cancer · 2026Article
- A novelBlood science (Baltimore, Md.) · 2026Article
- Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis.Molecular cytogenetics · 2026Article
- Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort.NPJ genomic medicine · 2026Article
- Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors.The Journal of molecular diagnostics : JMD · 2026Article
- A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control.Molecular cytogenetics · 2026Article
- From the bench of molecular understanding to the bedside of optimal therapy forEJC paediatric oncology · 2025Article
- Review
- Successful optical genome mapping from 500 000 cells: A low-input UHMW DNA extraction approach.MethodsX · 2025Article
- Benchmarking standard-of-care and emerging genomic approaches to enhance diagnosis in pediatric acute lymphoblastic leukemia.British journal of cancer · 2025Article
- An Attomolar-Level Biosensor Based on Polypyrrole and TiOSensors (Basel, Switzerland) · 2025Article
- Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies.International journal of molecular sciences · 2025Article
- The Use of Optical Genome Mapping for the Detection of Tyrosine Kinase Gene Fusions in Myeloid/Lymphoid Neoplasms.Journal of cellular and molecular medicine · 2025Article
- Article
- How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.Annals of hematology · 2025Article
- Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.HemaSphere · 2025Article
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping.Cancer science · 2024Review
- Optical Genome Mapping for Detection ofGenes · 2024Article
- [The progress in classification and prognosis evaluation of BCR::ABL1 positive acute lymphoblastic leukemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
Corrections and comments
- Erratum issuedCORRIGENDUM.2023
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute lymphoblastic leukemia (ALL) is a malignancy that can be subdivided into distinct entities based on clinical, immunophenotypic and genomic features, including mutations, structural variants (SVs), and copy number alterations (CNA). Chromosome banding analysis (CBA) and Fluorescent In-Situ Hybridization (FISH) together with Multiple Ligation-dependent Probe Amplification (MLPA), array and PCR-based methods form the backbone of routine diagnostics. This approach is labor-intensive, time-consuming and costly. New molecular technologies now exist that can detect SVs and CNAs in one test. Here we apply one such technology, optical genome mapping (OGM), to the diagnostic work-up of 41 ALL cases. Compared to our standard testing pathway, OGM identified all recurrent CNAs and SVs as well as additional recurrent SVs and the resulting fusion genes. Based on the genomic profile obtained by OGM, 32 patients could be assigned to one of the major cytogenetic risk groups compared to 23 with the standard approach. The latter identified 24/34 recurrent chromosomal abnormalities, while OGM identified 33/34, misinterpreting only 1 case with low hypodiploidy. The results of MLPA were concordant in 100% of cases. Overall, there was excellent concordance between the results. OGM increased the detection rate and cytogenetic resolution, and abrogated the need for cascade testing, resulting in reduced turnaround times. OGM also provided opportunities for better patient stratification and accurate treatment options. However, for comprehensive cytogenomic testing, OGM still needs to be complemented with CBA or SNP-array to detect ploidy changes and with BCR::ABL1 FISH to assign patients as soon as possible to targeted therapy.
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