Haematologica (Aug 2008)

Somatic hypermutation signature in B-cell low-grade lymphomas

  • Lorraine Tracey,
  • Mohit Aggarwal,
  • Mónica García-Cosio,
  • Raquel Villuendas,
  • Patrocinio Algara,
  • Margarita Sánchez-Beato,
  • Abel Sánchez-Aguilera,
  • Juan F. García,
  • Antonia Rodríguez,
  • Francisca I. Camacho,
  • Nerea Martínez,
  • Elena Ruiz-Ballesteros,
  • Manuela Mollejo,
  • Miguel Á. Piris

DOI
https://doi.org/10.3324/haematol.12999
Journal volume & issue
Vol. 93, no. 8

Abstract

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Background Immunoglobulin gene somatic hypermutation is a biologically relevant and clinically useful prognostic factor in different types of low-grade B-cell lymphomas, including chronic lymphocytic leukemia, mantle cell lymphoma and splenic marginal zone lymphoma.Design and Methods With the aim of identifying surrogate markers of somatic hypermutation, a combined investigation of IgVH mutational status and expression profiles of 93 samples from patients with small B-cell lymphoma was performed.Results The analysis identified an somatic hypermutation signature of genes involved in the regulation of gene transcription, DNA repair and replication, and chromosome maintenance. Eight of these genes were subjected to protein analysis using tissue microarrays, for a set of 118 cases. We found a clear link between RAD51C and CDK7 protein expression and somatic hypermutation status, in that positive expression of either marker was significantly associated with a mutated status (p