A single next generation sequencing assay for detection of driver mutations, rearrangements and copy number abnormalities in plasma cell dyscrasias - Summary - MDSpire

A single next generation sequencing assay for detection of driver mutations, rearrangements and copy number abnormalities in plasma cell dyscrasias

  • By

  • Cecilia Bonolo de Campos

  • Daniela Trujillo

  • James Smadbeck

  • Mariano Arribas

  • Hongwei Tang

  • Neeraj Sharma

  • Gregory J. Ahmann

  • Shaji K. Kumar

  • A. Keith Stewart

  • Rafael Fonseca

  • P. Leif Bergsagel

  • Yan W. Asmann

  • Linda B. Baughn

  • Esteban Braggio

  • March 28, 2026

  • 0 min

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Objective:

To present a targeted sequencing approach that detects structural variants, copy number abnormalities, and clinically relevant mutations specifically in multiple myeloma (MM).

Key Findings:
  • A median of two mutated genes per sample was identified, with KRAS, NRAS, and FAM46C being the most frequently mutated.
  • The sequencing approach demonstrated 100% sensitivity and specificity for several translocations and high sensitivity for detecting hyperdiploid MM.
  • The method improved detection of del(17p) sensitivity from 59% to 78% by targeting multiple regions.
Interpretation:

The next-generation sequencing approach provides a comprehensive assessment of genetic abnormalities in MM, surpassing the limitations of traditional FISH assays.

Limitations:
  • The study's findings are based on a specific patient cohort, which may limit generalizability and applicability to broader populations.
  • FISH was unavailable for some cases, potentially affecting comparative analysis and the robustness of the findings.
Conclusion:

The targeted sequencing panel is a robust tool for identifying critical genetic alterations in MM, enhancing diagnostic accuracy and risk stratification, with significant implications for clinical practice.

Original Source(s)

A single next generation sequencing assay for detection of driver mutations, rearrangements and copy number abnormalities in plasma cell dyscrasias

  • by Cecilia Bonolo de Campos, Daniela Trujillo, James Smadbeck, Mariano Arribas, Hongwei Tang, Neeraj Sharma, Gregory J. Ahmann, Shaji K. Kumar, A. Keith Stewart, Rafael Fonseca, P. Leif Bergsagel, Yan W. Asmann, Linda B. Baughn, Esteban Braggio

  • March 28, 2026

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