Mutations in the genes coding for the NF-κB regulating factors IκBα and A20 are uncommon in nodular lymphocyte-predominant Hodgkin's lymphoma

Haematologica. 2010 Jan;95(1):153-7. doi: 10.3324/haematol.2009.010157. Epub 2009 Jul 31.

Abstract

Nodular lymphocyte-predominant Hodgkin's lymphoma (NLPHL) shows constitutive NF-kappaB activity in the malignant lymphocyte-predominant (LP) cells. Constitutive NF-kappaB activity also plays a central pathogenetic role in classical Hodgkin's lymphoma (cHL), where inactivating mutations in the NFKBIA and TNFAIP3 genes, coding for the negative NF-kappaB regulators IkappaBalpha and A20, respectively, contribute to NF-kappaB activation. To determine whether mutations in NFKBIA and TNFAIP3 are also involved in the pathogenesis of NLPHL these genes were sequenced from microdissected LP cells of 10 primary NLPHL. We also studied DEV, the only cell line proposedly derived from LP cells, after we had confirmed its derivation from NLPHL by gene expression analysis. A heterozygous somatic missense mutation in the NFKBIA gene was found in one NLPHL, and a heterozygous, possibly subclonal, two base pair insertion in TNFAIP3 in another case. The low mutation frequency and the absence of biallelic destructive mutations propose a minor contribution of NFKBIA and TNFAIP3 mutations to the NF-kappaB activity of NLPHL, suggesting different mechanisms of NF-kappaB activation in NLPHL and cHL.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Tumor
  • DNA-Binding Proteins
  • Hodgkin Disease / genetics*
  • Hodgkin Disease / metabolism
  • Hodgkin Disease / pathology
  • Humans
  • I-kappa B Proteins / genetics*
  • I-kappa B Proteins / metabolism
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Lymph Nodes / metabolism
  • Lymph Nodes / pathology*
  • Lymphocytes / metabolism
  • Lymphocytes / pathology*
  • Lymphoma, Follicular / genetics
  • Lymphoma, Follicular / metabolism
  • Lymphoma, Follicular / pathology
  • Mutagenesis, Insertional
  • Mutation / genetics*
  • NF-KappaB Inhibitor alpha
  • NF-kappa B / genetics*
  • NF-kappa B / metabolism
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Tumor Necrosis Factor alpha-Induced Protein 3

Substances

  • DNA-Binding Proteins
  • I-kappa B Proteins
  • Intracellular Signaling Peptides and Proteins
  • NF-kappa B
  • NFKBIA protein, human
  • Nuclear Proteins
  • NF-KappaB Inhibitor alpha
  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3