PAX5-positive plasma cell myeloma with t(9;14;11)(p13;q32;q13), a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32)

Int J Hematol. 2015 Jun;101(6):608-11. doi: 10.1007/s12185-015-1749-5. Epub 2015 Jan 30.

Abstract

We describe herein the case of a 64-year-old man with a diagnosis of plasma cell myeloma (PCM). A chromosome analysis based on G-banding and spectral karyotyping revealed the following complex karyotype: 46,XY,del(3)(p?), t(4;15)(q31;q24),t(9;14;11)(p13;q32;q13),add(15)(q24),add(18)(q21). Fluorescence in situ hybridization (FISH) detected one signal each for the immunoglobulin heavy chain (IGH) and cyclin D1 (CCND1) genes, and three fusion signals of IGH and CCND1. FISH analysis of metaphase spreads revealed fusion signals on the derivative chromosomes 9, 11, and 14. Immunohistochemical analysis identified abnormal expression of CCND1 and PAX5. PAX5-positive PCM is rare because the down-regulation of PAX5 is essential for the terminal differentiation of B cells into plasma cells. To the best of our knowledge, this is the first reported case of a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32).

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Cyclin D1 / genetics
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Middle Aged
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / pathology*
  • PAX5 Transcription Factor / analysis*
  • PAX5 Transcription Factor / genetics
  • Plasma Cells / metabolism
  • Plasma Cells / pathology*
  • Translocation, Genetic*

Substances

  • CCND1 protein, human
  • Immunoglobulin Heavy Chains
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Cyclin D1