The C-MYB locus is involved in chromosomal translocation and genomic duplications in human T-cell acute leukemia (T-ALL), the translocation defining a new T-ALL subtype in very young children

Blood. 2007 Aug 15;110(4):1251-61. doi: 10.1182/blood-2006-12-064683. Epub 2007 Apr 23.

Abstract

The C-Myb transcription factor is essential for hematopoiesis, including in the T-cell lineage. The C-Myb locus is a common site of retroviral insertional mutagenesis, however no recurrent genomic involvement has been reported in human malignancies. Here, we identified 2 types of genomic alterations involving the C-MYB locus at 6q23 in human T-cell acute leukemia (T-ALL). First, we found a reciprocal translocation, t(6;7)(q23;q34), that juxtaposed the TCRB and C-MYB loci (n = 6 cases). Second, a genome-wide copy-number analysis by array-based comparative genomic hybridization (array-CGH) identified short somatic duplications that include C-MYB (MYB(dup), n = 13 cases of 84 T-ALL, 15%). Expression analysis, including allele-specific approaches, showed stronger C-MYB expression in the MYB-rearranged cases compared with other T-ALLs, and a dramatically skewed C-MYB allele expression in the TCRB-MYB cases, which suggests that a translocation-driven deregulated expression may overcome a cellular attempt to down-regulate C-MYB. Strikingly, profiling of the T-ALLs by clinical, genomic, and large-scale gene expression analyses shows that the TCRB-MYB translocation defines a new T-ALL subtype associated with a very young age for T-cell leukemia (median, 2.2 years) and with a proliferation/mitosis expression signature. By contrast, the MYB(dup) alteration was associated with the previously defined T-ALL subtypes.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Aged
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Female
  • Gene Dosage
  • Gene Expression Profiling
  • Genome, Human
  • Humans
  • Infant
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Proto-Oncogene Proteins c-myb / genetics*
  • Sequence Homology, Nucleic Acid
  • Translocation, Genetic*

Substances

  • Proto-Oncogene Proteins c-myb