ArticleScientific reports2021
Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 39 citations in OpenAlex.
- High-risk genomic features predict extramedullary progression in multiple myeloma with paraskeletal plasmacytomas.HemaSphere · 2026Article
- The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.Molecular diagnosis & therapy · 2026Review
- Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment-Resistant Subclones at the Time of Diagnosis.American journal of hematology · 2026Article
- Extramedullary Disease-Achilles Heel in Myeloma?American journal of hematology · 2026Review
- Next-Generation Biomarkers in Multiple Myeloma: Advancing Diagnosis, Risk Stratification, and Precision Therapy Beyond Current Guidelines.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics.GigaScience · 2026Article
- Multi-hit TP53 confers the poorest survival in multiple myeloma in the era of novel therapies.Molecular medicine (Cambridge, Mass.) · 2025Article
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- Review
- Extramedullary Multiple Myeloma: Challenges and Opportunities.Current oncology (Toronto, Ont.) · 2025Review
- Chromoanagenesis in Multiple Myeloma: A Comprehensive Overview.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Plasma Cell Neoplasms with Spreading in the Blood and Tissues: Extramedullary Myeloma Disease, a Rare Aggressive Form of Multiple Myeloma (First of Two Parts).Mediterranean journal of hematology and infectious diseases · 2025Review
- 1q21+ is associated with poor prognosis in newly diagnosed multiple myeloma patients with extramedullary disease: a retrospective study.Annals of hematology · 2024Article
- A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping.Blood cancer journal · 2024Article
- Predicting cytogenetic risk in multiple myeloma using conventional whole-body MRI, spinal dynamic contrast-enhanced MRI, and spinal diffusion-weighted imaging.Insights into imaging · 2024Article
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- Concomitant 1q+ and t(4;14) influences disease characteristics, immune system, and prognosis in double-hit multiple myeloma.Blood cancer journal · 2023Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Extramedullary disease (EMM) represents a rare, aggressive and mostly resistant phenotype of multiple myeloma (MM). EMM is frequently associated with high-risk cytogenetics, but their complex genomic architecture is largely unexplored. We used whole-genome optical mapping (Saphyr, Bionano Genomics) to analyse the genomic architecture of CD138+ cells isolated from bone-marrow aspirates from an unselected cohort of newly diagnosed patients with EMM (n = 4) and intramedullary MM (n = 7). Large intrachromosomal rearrangements (> 5 Mbp) within chromosome 1 were detected in all EMM samples. These rearrangements, predominantly deletions with/without inversions, encompassed hundreds of genes and led to changes in the gene copy number on large regions of chromosome 1. Compared with intramedullary MM, EMM was characterised by more deletions (size range of 500 bp-50 kbp) and fewer interchromosomal translocations, and two EMM samples had copy number loss in the 17p13 region. Widespread genomic heterogeneity and novel aberrations in the high-risk IGH/IGK/IGL, 8q24 and 13q14 regions were detected in individual patients but were not specific to EMM/MM. Our pilot study revealed an association of chromosome 1 abnormalities in bone marrow myeloma cells with extramedullary progression. Optical mapping showed the potential for refining the complex genomic architecture in MM and its phenotypes.
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