Chromosome abnormalities of the short arm of chromosome 12 in hematopoietic malignancies: a report including three novel translocations involving the TEL/ETV6 gene

Leukemia. 1997 Sep;11(9):1400-3. doi: 10.1038/sj.leu.2400785.

Abstract

A wide variety of abnormalities of the short arm of chromosome 12 has been reported in hematologic malignancies. The most frequent rearrangements result from t(12;21)(p13;q22) of childhood acute lymphoblastic leukemia, a translocation cryptic when leukemic cells are analyzed with chromosome banding techniques. This translocation results in a fusion of the TEL/ETV6 and AML1 genes. In this report, examples of rearrangements of 12p are presented. Study of two complex chromosome abnormalities associated with t(12;21) emphasizes the importance of using FISH in detection of such translocations. Three novel translocations involving the TEL/ETV6 gene localized on 12p13 are also reported: t(X;12)(q28;p13), t(1;12)(q21;p13), and t(9;12)(p23-24;p13). Finally, the presentation of two translocations with breakpoints located centromeric to TEL/ETV6 highlights the not uncommon involvement of genes other than TEL/ETV6 on 12p.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Refractory, with Excess of Blasts / genetics*
  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 9
  • DNA-Binding Proteins / genetics*
  • ETS Translocation Variant 6 Protein
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins*
  • Transcription Factors / genetics*
  • Translocation, Genetic
  • X Chromosome

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors