Translocation t(5;14)(q35;q32) in three cases of childhood T cell acute lymphoblastic leukemia: a new recurring and cryptic abnormality

Leukemia. 2002 Jan;16(1):7-12. doi: 10.1038/sj.leu.2402347.

Abstract

We report three cases of T-ALL in which conventional cytogenetic analysis yielded normal karyotypes, but for which a new M-FISH technique (IPM-FISH) was able to detect a translocation. For these patients this technique highlighted a new, recurring and cryptic translocation t(5;14)(q35;q32) in childhood T-ALL which might be phenotypically restricted. The most innovative part of this technique is the use of interspersed polymerase chain reaction (IRS-PCR) painting probes that show an R-band pattern simultaneous with the combinatorial labeling. Contrary to the DOP-PCR, IRS-PCR-derived probes provide stronger hybridization signals at the telomeric ends that potentially increase the possibility of detecting cryptic translocations. All the IPM-FISH findings were validated by FISH with whole chromosome painting and unique sequence probes. These results demonstrate the efficient use of IPM-FISH as an improved, single-step method for the identification of cryptic chromosomal abnormalities. This new IPM-FISH technique is a good tool to display cryptic chromosomal abnormalities.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Painting / methods*
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 14 / ultrastructure*
  • Chromosomes, Human, Pair 5 / genetics
  • Chromosomes, Human, Pair 5 / ultrastructure*
  • DNA Probes
  • Humans
  • Karyotyping
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Leukemia-Lymphoma, Adult T-Cell / pathology
  • Male
  • Phenotype
  • Polymerase Chain Reaction / methods
  • Telomere / genetics
  • Telomere / ultrastructure
  • Translocation, Genetic*

Substances

  • DNA Probes