Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma

Blood. 2007 Nov 1;110(9):3291-300. doi: 10.1182/blood-2007-02-075069. Epub 2007 Jul 3.

Abstract

We performed fluorescent in situ hybridization (FISH) for 16q23 abnormalities in 861 patients with newly diagnosed multiple myeloma and identified deletion of 16q [del(16q)] in 19.5%. In 467 cases in which demographic and survival data were available, del(16q) was associated with a worse overall survival (OS). It was an independent prognostic marker and conferred additional adverse survival impact in cases with the known poor-risk cytogenetic factors t(4;14) and del(17p). Gene expression profiling and gene mapping using 500K single-nucleotide polymorphism (SNP) mapping arrays revealed loss of heterozygosity (LOH) involving 3 regions: the whole of 16q, a region centered on 16q12 (the location of CYLD), and a region centered on 16q23 (the location of the WW domain-containing oxidoreductase gene WWOX). CYLD is a negative regulator of the NF-kappaB pathway, and cases with low expression of CYLD were used to define a "low-CYLD signature." Cases with 16q LOH or t(14;16) had significantly reduced WWOX expression. WWOX, the site of the translocation breakpoint in t(14;16) cases, is a known tumor suppressor gene involved in apoptosis, and we were able to generate a "low-WWOX signature" defined by WWOX expression. These 2 genes and their corresponding pathways provide an important insight into the potential mechanisms by which 16q LOH confers poor prognosis.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 16*
  • Deubiquitinating Enzyme CYLD
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Loss of Heterozygosity / genetics*
  • Middle Aged
  • Multiple Myeloma / diagnosis*
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / mortality
  • Oligonucleotide Array Sequence Analysis
  • Oxidoreductases / genetics*
  • Prognosis
  • Survival Analysis
  • Translocation, Genetic
  • Tumor Cells, Cultured
  • Tumor Suppressor Proteins / genetics*
  • WW Domain-Containing Oxidoreductase

Substances

  • Tumor Suppressor Proteins
  • Oxidoreductases
  • WW Domain-Containing Oxidoreductase
  • WWOX protein, human
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD