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December 8, 2025BloodOpen Access

Comprehensive characterization of multiple myeloma genomes from bone marrow or peripheral blood with a novel clinical assay enables identification of resistance mechanisms

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Authors

BPBruno PaivaPGPatricia T. GreippRMReid G. Meyer

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Overview

Clinical assay shows improvements in detecting genetic alterations in multiple myeloma, highlighting resistance mechanisms in circulating tumor cells and bone marrow.

Key Points

  • This research explores the effectiveness of whole genome sequencing in identifying genetic alterations in multiple myeloma to enhance therapy precision.
  • Characterization of multiple myeloma samples using whole genome sequencing (WGS) from blood and bone marrow
  • Tumor cells isolated from peripheral blood and bone marrow via FACS and subjected to WGS analysis
  • Comparison of results from WGS with prior fluorescence in situ hybridization (FISH) findings
  • GenoPredicta detected 100% of genomic abnormalities in both bone marrow and peripheral blood samples
  • Identified multiple high-risk events such as biallelic TP53 loss and MYC::IGL translocations
  • Resistance mutations in therapeutic targets were also identified, enabling improved treatment responses.

Cite This Study

Paiva et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d583https://doi.org/10.1182/blood-2025-2586
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Abstract 1067: Whole genome sequencing of multiple myeloma genomes with a novel clinical assay enables identification of genetic alterations underlying immunotherapy resistance2026
  2. 2Liquid biopsy for non-invasive molecular characterization and measurable residual disease analysis in multiple myeloma2025
  3. 3Replacing FISH with a comprehensive integrated approach for tumor genotyping and immune monitoring in multiple myeloma: The flagship study2025 · 1 citations
  4. 4A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping2024 · 24 citations
  5. 5Targeted long-read sequencing with adaptive sampling in multiple myeloma: A pilot study toward a unified diagnostic platform2025 · 1 citations