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December 8, 2025Blood

Comprehensive genomic profiling of diffuse large B cell lymphoma using targeted NGS: Insights into MYC, BCL2, and BCL6 rearrangements and beyond

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Authors

SCShaun CordobaISIsmael De La Iglesia San SebastiánJTJuan Carlos Triviño

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Overview

Targeted NGS reveals impactful gene rearrangements in diffuse large B cell lymphoma, suggesting improved patient stratification.

Key Points

  • The aim was to evaluate the performance of targeted next-generation sequencing for genomic profiling in diffuse large B cell lymphoma.
  • Analyzed formalin-fixed paraffin-embedded tumor samples from 48 lymphomas using FISH and NGS.
  • Sequencing with ReLymph-NGS panel to detect gene rearrangements, CNVs, and mutations.
  • Sequencing reads were aligned to the human genome and analyzed for small variants and structural variants.
  • Identified 59 fusion genes in 37 cases, with 26 MYC rearrangements detected.
  • 78% of MYC fusions in double-hit cases involved non-IG partners, contrasting with 33% in single-hit cases.
  • NGS clarified inconclusive FISH results and provided information about CNVs and small variants.

Cite This Study

Cordoba et al. (2025) studied this question.

synapsesocial.com/papers/69362f5a4fa91c937236dae3https://doi.org/10.1182/blood-2025-5310
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