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<p>Monoclonal B-cell lymphocytosis of marginal zone origin (MBL-MZ) is an indolent clonal disorder with potential progression to lymphoma. <i>MYC</i> rearrangements (MYCr), typically linked to aggressive B-cell lymphomas, have not been reported in MBL-MZ. We describe three MBL-MZ cases with MYCr and <i>TP53</i> alterations, detected via karyotyping, FISH, and optical genome mapping. We genetically characterized these cases by NGS using a custom panel including 31 MZ-related genes, and we assessed MYC expression via RNA-Seq. Despite harboring these high-risk alterations, all cases exhibited stable clinical courses without lymphoma transformation. These findings suggest MYCr alone may not drive aggressive behavior in MBL-MZ, underscoring the need for integrated genetic and clinical assessment to prevent overtreatment.</p> Graphical Abstract <p></p>

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Genomic characterization of clonal B-cell lymphocytosis of marginal zone origin with MYC rearrangements

  • 期刊论文

  • 发表日期：

    2025年7月29日

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  • Ramón Diez-Feijóo,
  • Mar Teixidó,
  • Ana Ferrer,
  • Marta Lafuente,
  • María Rodriguez-Rivera,
  • Anna Puiggros,
  • Xavier Calvo,
  • Luis Colomo,
  • Bárbara Tazón-Vega,
  • Cristina López,
  • Guillem Clot,
  • Blanca Sanchez-Gonzalez,
  • Christelle Ferrá,
  • Beatriz Bellosillo,
  • Blanca Espinet,
  • Antonio Salar,
  • Marta Salido

摘要

Monoclonal B-cell lymphocytosis of marginal zone origin (MBL-MZ) is an indolent clonal disorder with potential progression to lymphoma. MYC rearrangements (MYCr), typically linked to aggressive B-cell lymphomas, have not been reported in MBL-MZ. We describe three MBL-MZ cases with MYCr and TP53 alterations, detected via karyotyping, FISH, and optical genome mapping. We genetically characterized these cases by NGS using a custom panel including 31 MZ-related genes, and we assessed MYC expression via RNA-Seq. Despite harboring these high-risk alterations, all cases exhibited stable clinical courses without lymphoma transformation. These findings suggest MYCr alone may not drive aggressive behavior in MBL-MZ, underscoring the need for integrated genetic and clinical assessment to prevent overtreatment.

Graphical Abstract