Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing

Blood. 2011 Jan 20;117(3):915-9. doi: 10.1182/blood-2010-08-303305. Epub 2010 Oct 28.

Abstract

The genetics of peripheral T-cell lymphomas are poorly understood. The most well-characterized abnormalities are translocations involving ALK, occurring in approximately half of anaplastic large cell lymphomas (ALCLs). To gain insight into the genetics of ALCLs lacking ALK translocations, we combined mate-pair DNA library construction, massively parallel ("Next Generation") sequencing, and a novel bioinformatic algorithm. We identified a balanced translocation disrupting the DUSP22 phosphatase gene on 6p25.3 and adjoining the FRA7H fragile site on 7q32.3 in a systemic ALK-negative ALCL. Using fluorescence in situ hybridization, we demonstrated that the t(6;7)(p25.3;q32.3) was recurrent in ALK-negative ALCLs. Furthermore, t(6;7)(p25.3;q32.3) was associated with down-regulation of DUSP22 and up-regulation of MIR29 microRNAs on 7q32.3. These findings represent the first recurrent translocation reported in ALK-negative ALCL and highlight the utility of massively parallel genomic sequencing to discover novel translocations in lymphoma and other cancers.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anaplastic Lymphoma Kinase
  • Base Sequence
  • Chromosome Breakage
  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Dual-Specificity Phosphatases / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma, Large-Cell, Anaplastic / genetics*
  • Lymphoma, Large-Cell, Anaplastic / pathology
  • Male
  • MicroRNAs / genetics
  • Middle Aged
  • Mitogen-Activated Protein Kinase Phosphatases / genetics
  • Molecular Sequence Data
  • Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases
  • Sequence Analysis, DNA / methods
  • Translocation, Genetic*

Substances

  • MIRN29a microRNA, human
  • MicroRNAs
  • ALK protein, human
  • Anaplastic Lymphoma Kinase
  • Protein-Tyrosine Kinases
  • Receptor Protein-Tyrosine Kinases
  • Mitogen-Activated Protein Kinase Phosphatases
  • DUSP22 protein, human
  • Dual-Specificity Phosphatases