Molecular characterization of a novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma between the T-cell receptor delta-deleting elements (TRDREC and TRAJ61) and the hypothetical gene C12orf42

Eur J Haematol. 2010 Nov;85(5):452-6. doi: 10.1111/j.1600-0609.2010.01508.x.

Abstract

Chromosomal aberrations have diagnostic, prognostic, and therapeutic relevance in hematologic malignancies. By combining fine-tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR), we established a fast, robust approach to precisely characterize chromosomal breakpoints. Using this approach, we clarified at the molecular level novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma. The translocation occurred during the deletional rearrangement of the T-cell receptor delta gene (TRD), which is a pivotal step in T cell differentiation toward the alpha/beta vs. the gamma/delta lineage. We found that this rearrangement disrupted the hypothetical gene C12orf42 and brought the Achaete-scute complex homolog 1 gene into proximity of the TRA enhancer, which encodes a member of the basic helix-loop-helix family of transcription factors and is overexpressed in thyroid and lung cancers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 14 / genetics
  • Gene Rearrangement, T-Lymphocyte
  • Humans
  • Lung Neoplasms / genetics
  • Methods
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Receptors, Antigen, T-Cell, gamma-delta / genetics*
  • Thyroid Neoplasms / genetics
  • Transcription Factors / genetics
  • Translocation, Genetic*

Substances

  • Receptors, Antigen, T-Cell, gamma-delta
  • Transcription Factors