Primary cutaneous marginal zone B-cell lymphomas are targeted by aberrant somatic hypermutation

J Invest Dermatol. 2009 Feb;129(2):476-9. doi: 10.1038/jid.2008.243. Epub 2008 Aug 14.

Abstract

A mechanism inducing genetic instability, termed aberrant somatic hypermutation (ASHM), has been described in diffuse large B-cell lymphoma. To further investigate whether ASHM also occurs in primary cutaneous marginal zone B-cell lymphoma (PCMZL), we studied the mutational profile of PAX5, RhoH/TTF, cMYC, and PIM1 in 11 PCMZLs. A total of 17 sequence variants were found in 8 of 11 lymphomas cases (72.7%), and they displayed the molecular features typical for the ASHM. Further, two mutations, one mutation in PIM1 and one in cMYC, led to amino-acid substitution with potential functional consequences. These data indicate that ASHM is associated with PCMZLs. By mutating regulatory and coding sequences of the targeted genes, ASHM may represent a major contributor to their pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • DNA Mutational Analysis
  • Genomic Instability
  • Humans
  • Lymphoma, B-Cell / genetics*
  • PAX5 Transcription Factor / genetics
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-pim-1 / genetics
  • Skin Neoplasms / genetics*
  • Somatic Hypermutation, Immunoglobulin*
  • Transcription Factors / genetics
  • rho GTP-Binding Proteins / genetics

Substances

  • MYC protein, human
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Proto-Oncogene Proteins c-myc
  • RhoH protein, human
  • Transcription Factors
  • PIM1 protein, human
  • Proto-Oncogene Proteins c-pim-1
  • rho GTP-Binding Proteins