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December 8, 2025BloodOpen Access

Genomic and transcriptomic signatures of extramedullary multiple myeloma reveal possible drivers of therapeutic resistance

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Authors

CDCatherine DuaneMOMichael O’DwyerARAdam Roche

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Overview

Genomic profiling reveals therapeutic resistance and tumor heterogeneity in extramedullary multiple myeloma, highlighting glycosylation's role.

Key Points

  • The study aims to characterize genomic and transcriptomic signatures of extramedullary multiple myeloma to identify resistance mechanisms and targets.
  • Biopsy samples from 10 patients were profiled for DNA and RNA.
  • Sequencing and analysis involved platforms like Illumina NovaSeq and methods like CRISPR-Cas9 knockout.
  • Statistical analyses were performed to correlate molecular findings with clinical data.
  • EMD samples showed substantial heterogeneity compared to paired BM samples.
  • Significant CN gains in genes linked to mutation and therapy resistance were observed in EMD samples.
  • Key genes such as MUC1 and ST3GAL1 were identified as potential drivers of therapeutic resistance and immune evasion.

Cite This Study

Duane et al. (2025) studied this question.

synapsesocial.com/papers/69362f694fa91c937236de8ahttps://doi.org/10.1182/blood-2025-2175
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