Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses

Sonia Fabris, Luca Agnelli, Michela Mattioli, Luca Baldini, Domenica Ronchetti, Fortunato Morabito, Donata Verdelli, Lucia Nobili, Daniela Intini, Vincenzo Callea, Caterina Stelitano, Luigia Lombardi, Antonino Neri

Research output: Contribution to journalArticlepeer-review


Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus and various partner loci frequently are associated with multiple myeloma (MM). We investigated the expression profiles of the FGFR3/MMSET, CCNDI, CCND3, MAF, and MAFB genes, which are involved in t(4;14)(p16.3;q32), t(11;14)(q13;q32), t(6;14)(p21;q32), t(14;16)(q32;q23), and t(14; 20)(q32;q12), respectively, in purified plasma cell populations from 39 MMs and six plasma cell leukemias (PCL) by DNA microarray analysis and compared the results with the presence of translocations as assessed by dual-color FISH or RT-PCR. A t(4;14) was found in 6 MMs, t(11;14) in 9 MMs and 1 PCL, t(6;14) in I MM, t(14;16) in 2 MMs and 1 PCL, and t(14;20) in 1 PCL. In all cases, the translocations were associated with the spiked expression of target genes. Furthermore, gene expression profiling enabled the identification of putative translocations causing dysregulation of CCND 1 (1 MM and 1 PCL) and MAFB (1 MM and 1 PCL) without any apparent involvement of immunoglobulin loci. Notably, all of the translocations were mutually exclusive. Markedly increased MMSET expression was found in 1 MM showing associated FGFR3 and MMSET signals on an unidentified chromosome. Our data suggest the importance of using combined molecular cytogenetic and gene expression approaches to detect genetic aberrations in MM.

Original languageEnglish
Pages (from-to)117-127
Number of pages11
JournalGenes Chromosomes and Cancer
Issue number2
Publication statusPublished - Feb 2005

ASJC Scopus subject areas

  • Cancer Research
  • Genetics


Dive into the research topics of 'Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses'. Together they form a unique fingerprint.

Cite this