Mutation analysis of NF-κB signal pathway-related genes in ocular MALT lymphoma

Int J Clin Exp Pathol. 2012;5(5):436-41. Epub 2012 May 23.

Abstract

Constitutive nuclear factor-kappa B (NF-κB) activation has been reported in ocular adnexal lymphoma (OAL). TNFAIP3/A20 is a "global" inhibitor of NF-κB pathway. We have shown that OAL has preferential loss of the 6q23.3 region where TNFAIP3/A20 exist, which is suggested to involve in lymphomagenesis of OAL. The mechanisms causing NF-κB activity in OAL remain elusive. Recently, NF-κB canonical pathway genes including CARD11, CD79B and MYD88 were shown to be frequently mutated in diffuse large B-cell lymphomas. In this study, we analyzed the mutation status of these genes by direct sequencing in 24 OAL cases including 9 cases with loss of 6q23.3 previously identified by array comparative genomic hybridization. We showed that genetic alterations of these genes were not found in OAL, a finding differing from that of most B-cell lymphomas. Genetic or epigenetic alterations in other genes are likely to be relevant in pathogenesis of OAL case without A20 loss.

Keywords: NF-κB related gene mutation; Ocular adnexal lymphoma; TNFAIP3 (A20) deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CARD Signaling Adaptor Proteins / genetics
  • CD79 Antigens / genetics
  • DNA Mutational Analysis / methods*
  • DNA Primers
  • DNA-Binding Proteins / genetics
  • Eye Neoplasms / genetics*
  • Eye Neoplasms / metabolism
  • Eye Neoplasms / pathology
  • Guanylate Cyclase / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Lymphoma, B-Cell, Marginal Zone / genetics*
  • Lymphoma, B-Cell, Marginal Zone / metabolism
  • Lymphoma, B-Cell, Marginal Zone / pathology
  • Membrane Glycoproteins / genetics
  • Mutation
  • NF-kappa B / genetics*
  • NF-kappa B / metabolism
  • Nuclear Proteins / genetics
  • Receptors, Interleukin-1 / genetics
  • Signal Transduction
  • Tumor Necrosis Factor alpha-Induced Protein 3

Substances

  • CARD Signaling Adaptor Proteins
  • CD79 Antigens
  • CD79B protein, human
  • DNA Primers
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NF-kappa B
  • Nuclear Proteins
  • Receptors, Interleukin-1
  • TIRAP protein, human
  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3
  • CARD11 protein, human
  • Guanylate Cyclase