ArticleBlood cancer journal2022
Structural variants shape the genomic landscape and clinical outcome of multiple myeloma.
Article in Blood cancer journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Spatial transcriptomics identifies a suppressive, T-cell-excluded tumor microenvironment in extramedullary myeloma.Blood advances · 2026Article
- Micronuclei: origins, assays, mechanisms, diseases and treatments.Signal transduction and targeted therapy · 2026Review
- From Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy.Human mutation · 2026Review
- Temporal genomic dynamics shape clinical trajectory in multiple myeloma.Nature genetics · 2025Article
- Individualized dynamic risk assessment and treatment selection for multiple myeloma.British journal of cancer · 2025Article
- Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes.Scientific reports · 2025Article
- Whole genome sequencing and the genetics of extramedullary disease in multiple myeloma.Blood cancer journal · 2025Article
- Chromoanagenesis in Multiple Myeloma: A Comprehensive Overview.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Thioredoxin Domain Containing 5 (TXNDC5): Friend or Foe?Current issues in molecular biology · 2024Review
- Gene signatures to therapeutics: Assessing the potential of ivermectin against t(4;14) multiple myeloma.World journal of clinical oncology · 2024Article
- Molecular genetic aberrations in the pathogenesis of multiple myeloma.Asian biomedicine : research, reviews and news · 2023Review
- Chromothripsis detection with multiple myeloma patients based on deep graph learning.Bioinformatics (Oxford, England) · 2023Article
- Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 2 countries.
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Abstract
Deciphering genomic architecture is key to identifying novel disease drivers and understanding the mechanisms underlying myeloma initiation and progression. In this work, using the CoMMpass dataset, we show that structural variants (SV) occur in a nonrandom fashion throughout the genome with an increased frequency in the t(4;14), RB1, or TP53 mutated cases and reduced frequency in t(11;14) cases. By mapping sites of chromosomal rearrangements to topologically associated domains and identifying significantly upregulated genes by RNAseq we identify both predicted and novel putative driver genes. These data highlight the heterogeneity of transcriptional dysregulation occurring as a consequence of both the canonical and novel structural variants. Further, it shows that the complex rearrangements chromoplexy, chromothripsis and templated insertions are common in MM with each variant having its own distinct frequency and impact on clinical outcome. Chromothripsis is associated with a significant independent negative impact on clinical outcome in newly diagnosed cases consistent with its use alongside other clinical and genetic risk factors to identify prognosis.
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