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December 8, 2025BloodOpen Access

Combining next-generation sequencing and optical genome mapping techniques to analyze genomic abnormalities in marginal zone lymphoma

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Authors

JRJun RaoLGLi Gao

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Overview

Assessment reveals genomic instability and treatment response implications in marginal zone lymphoma using next-generation sequencing and optical genome mapping.

Key Points

  • To evaluate the clinical utility of combining next-generation sequencing and optical genome mapping in diagnosing marginal zone lymphoma (MZL).
  • Enrolled 25 MZL patients diagnosed and treated at a military hospital.
  • Conducted genetic testing using OGM and NGS along with FISH and karyotype analysis.
  • Categorized cytogenomic findings as pathogenic or of uncertain significance.
  • 84% of patients underwent NGS and OGM, revealing significant chromosomal alterations.
  • Higher genomic instability observed in stage IV MZL compared to lower stages, associating with treatment response.
  • Frequent mutations identified in genes related to epigenetics and tumor suppression.

Cite This Study

Rao et al. (2025) studied this question.

synapsesocial.com/papers/69362f7f4fa91c937236e57ehttps://doi.org/10.1182/blood-2025-3535
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